Artykuły w czasopismach: „Thalassemia”

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Pattanapanyasat, Kovit, Kosol Yongvanitchit, Pongsri Tongtawe, Kalaya Tachavanich, Wanchai Wanachiwanawin, Suthat Fucharoen i Douglas S. Walsh. "Impairment of Plasmodium falciparum Growth in Thalassemic Red Blood Cells: Further Evidence by Using Biotin Labeling and Flow Cytometry". Blood 93, nr 9 (1.05.1999): 3116–19. http://dx.doi.org/10.1182/blood.v93.9.3116.

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Abstract Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from -thalassemia patients (both -thalassemia1/-thalassemia2 and -thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas.

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Pattanapanyasat, Kovit, Kosol Yongvanitchit, Pongsri Tongtawe, Kalaya Tachavanich, Wanchai Wanachiwanawin, Suthat Fucharoen i Douglas S. Walsh. "Impairment of Plasmodium falciparum Growth in Thalassemic Red Blood Cells: Further Evidence by Using Biotin Labeling and Flow Cytometry". Blood 93, nr 9 (1.05.1999): 3116–19. http://dx.doi.org/10.1182/blood.v93.9.3116.409a37_3116_3119.

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Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from -thalassemia patients (both -thalassemia1/-thalassemia2 and -thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas.

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Olivieri, O., L. De Franceschi, MD Capellini, D. Girelli, R. Corrocher i C. Brugnara. "Oxidative damage and erythrocyte membrane transport abnormalities in thalassemias". Blood 84, nr 1 (1.07.1994): 315–20. http://dx.doi.org/10.1182/blood.v84.1.315.bloodjournal841315.

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Oxidative damage induced by free globin chains has been implicated in the pathogenesis of the membrane abnormalities observed in alpha and beta thalassemia. We have evaluated transport of Na+ and K+ in erythrocytes of patients with thalassemias as well as in two experimental models that use normal human red blood cells, one for alpha thalassemia (methylhydrazine treatment, alpha thalassemia like) and one for beta thalassemia (phenylhydrazine treatment, beta thalassemia like). With the exception of the Na-K pump, similar alterations in membrane transport were observed in thalassemia and thalassemia-like erythrocytes. These were: increased K-Cl cotransport, Na-Li countertransport and reduced Na-K-Cl cotransport. The Na-K pump was reduced in thalassemia-like cells, whereas it was increased in severe alpha thalassemia and in beta thalassemia cells. The increased K- Cl cotransport activity could be observed in light and dense fractions of beta-thalassemic cells. K-Cl cotransport in thalassemic and thalassemia-like erythrocytes was partially inhibited by [(dihydro- indenyl) oxy] alkanoic acid and completely abolished by dithiothreitol. Thus, oxidative damage represents an important factor in the increased activity of the K-Cl cotransport observed in thalassemias, and of the K+ loss observed in beta-thalassemia erythrocytes.

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Olivieri, O., L. De Franceschi, MD Capellini, D. Girelli, R. Corrocher i C. Brugnara. "Oxidative damage and erythrocyte membrane transport abnormalities in thalassemias". Blood 84, nr 1 (1.07.1994): 315–20. http://dx.doi.org/10.1182/blood.v84.1.315.315.

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Abstract Oxidative damage induced by free globin chains has been implicated in the pathogenesis of the membrane abnormalities observed in alpha and beta thalassemia. We have evaluated transport of Na+ and K+ in erythrocytes of patients with thalassemias as well as in two experimental models that use normal human red blood cells, one for alpha thalassemia (methylhydrazine treatment, alpha thalassemia like) and one for beta thalassemia (phenylhydrazine treatment, beta thalassemia like). With the exception of the Na-K pump, similar alterations in membrane transport were observed in thalassemia and thalassemia-like erythrocytes. These were: increased K-Cl cotransport, Na-Li countertransport and reduced Na-K-Cl cotransport. The Na-K pump was reduced in thalassemia-like cells, whereas it was increased in severe alpha thalassemia and in beta thalassemia cells. The increased K- Cl cotransport activity could be observed in light and dense fractions of beta-thalassemic cells. K-Cl cotransport in thalassemic and thalassemia-like erythrocytes was partially inhibited by [(dihydro- indenyl) oxy] alkanoic acid and completely abolished by dithiothreitol. Thus, oxidative damage represents an important factor in the increased activity of the K-Cl cotransport observed in thalassemias, and of the K+ loss observed in beta-thalassemia erythrocytes.

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5

Jha, R. "Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography". Journal of Pathology of Nepal 5, nr 10 (14.09.2015): 850–58. http://dx.doi.org/10.3126/jpn.v5i10.15642.

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Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies. Cellulose acetate electrophoresis at alkaline pH and diagnosis based mainly on visual impression of thickness of band may miss the thalassemic trait patients. The aim of this study was to find out different hemoglobinopathies and thalassemia presenting in our hospital and to compare electrophoresis results with HPLC.Materials and Methods: This study was performed in the hematopathology section of Department of Pathology of Tribhuvan University Teaching Hospital on cases sent for electrophoresis during 18 months period from October 2013 to March 2015 and included hemoglobinopathies and thalassemias identified by either electrophoresis or HPLC. 97 cases fulfilled the inclusion criteria and thus were included in the study. Electrophoresis at alkaline pH was done in all whereas HPLC was performed in 27 cases.Results: A sharp peak of hemoglobinopathies and thalassemias was seen in Tharu community though other communities are also affected. Thalassemia trait was the most common diagnosis (26.8%) followed by sickle cell anemia (21.6%). Electrophoresis was efficient in detecting some alpha thalassemia variants but missed many cases of beta thalassemia trait.Conclusion: Beta Thalassemia trait and sickle cell anemia both are common in Nepal , along with some other hemoglobinopathies A sharp peak of hemoglobinopathies and thalassemias are seen in Tharu community. These abnormal hemoglobins and thalassemias are mainly seen in Terai region. Electrophoresis fails to quantify hemoglobin percentage and thus is not appropriate test in beta thalassemia screening.

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De Sanctis, Vincenzo. "CONCISE REVIEW ON THE FREQUENCY, MAJOR RISK FACTORS AND SURVEILLANCE OF HEPATOCELLULAR CARCINOMA (HCC) IN Β-THALASSEMIAS: PAST, PRESENT AND FUTURE PERSPECTIVES". Mediterranean Journal of Hematology and Infectious Diseases 12, nr 1 (1.01.2020): e2020006. http://dx.doi.org/10.4084/mjhid.2020.006.

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Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy, and Greece. Among HCV-infected patients additional factors promoting development of HCC, included: advanced age, male sex, chronic hepatitis B (CHB) coinfection, and iron overload. For early diagnosis of HCC sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), that coincide with (one or more) additional risk factors for HCC. Here we report also the preliminary data of thalassemic patients, above the age of 30 years, followed in 13 different centers. The total number of enrolled patients was 1,313 (males: 612 and 701 females). The prevalence of HCC in thalassemia major patients [characterized by transfusion-dependency (TDT)] and thalassemia intermedia [characterized by nontransfusion dependency (NTDT)] was 1.68 % and 1.98 % ,respectively The lowest age at diagnosis was 36 years in TDT and 47 years in NTDT patients.We hope that our review can be used to develop more refined and prospective analyses of HCC magnitude and risk in patients with thalassemia, and to define specific international guidelines to support clinicians for an early diagnosis and treatment of HCC in thalassemic patients.

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Sunarto, Sunarto. "Prenatal Diagnosis of Thalassemia". Paediatrica Indonesiana 33, nr 7-8 (24.01.2019): 191–9. http://dx.doi.org/10.14238/pi33.7-8.1993.191-9.

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Thalassemia is an individual as well as a community health problem in some countries. It causes a lifelong suffering for the affected individuals. There is no treatment other than supportive, i.e. regular transfusions and removal of iron overload from the body. Only by such continuous and expensive treatment thalassemic patients can-generally achieve nearly normal health, but the health burden of such therapy for a large number of thalassemic patients is unaffordable by the affected communities. Prevention of the births of thalassemic babies is the choice for controlling the thalassemia and has been successful in many countries. For this purpose reliable and time accurate prenatal diagnosis is a conditio sine qua non. Blood fetal sampling is safe and can be done after 16 weeks gestation, amniocentesis after 14 weeks, and even chorionic villi sampling as early as 8 weeks gestation. In vitro globin synthesis analysis applied to the fetal blood sample is very reliable to measure the rate of synthesis of the globin chains that make up the hemoglobin. The-DNA analysis of the fibroblasts obtained by amniocentesis or of the chorionic villus sample is very sensitive and specific for the diagnosis of the genetic disorder in thalassemias. By involving the prenatal diagnosis, the birth of B-homozygous thalassemia has decreased by up to 90%.

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Advani, R., S. Sorenson, E. Shinar, W. Lande, E. Rachmilewitz i SL Schrier. "Characterization and comparison of the red blood cell membrane damage in severe human alpha- and beta-thalassemia". Blood 79, nr 4 (15.02.1992): 1058–63. http://dx.doi.org/10.1182/blood.v79.4.1058.1058.

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Abstract The aim of the present work was to understand the pathophysiology of the severe human thalassemias as represented by beta-thalassemia intermedia and hemoglobin (Hb) H (alpha-thalassemia) disease. We have previously shown that the material properties of the red blood cell (RBC) and its membrane differ in severe alpha- and beta-thalassemia, and we now show that this difference is probably caused by accumulation of alpha-globin chains at the cytoskeleton in beta-thalassemia, whereas beta-globin chains are associated with the cytoskeleton in alpha- thalassemia. In both alpha- and beta-thalassemia, some of these globin chains have become oxidized as evidenced by loss of the free thiols. Furthermore, there is similar evidence of oxidation of protein 4.1 in beta-thalassemia, whereas beta-spectrin appears to be subject to oxidation in alpha-thalassemia. These observations support the idea that the association of partly oxidized globin chains with the cytoskeleton results in oxidation of adjacent skeletal proteins. The abnormality of protein 4.1 in beta-thalassemia is consistent with a prior observation, and is also in accord with the known importance of protein 4.1 in maintenance of membrane stability, a property that is abnormal in beta-thalassemic membranes.

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Advani, R., S. Sorenson, E. Shinar, W. Lande, E. Rachmilewitz i SL Schrier. "Characterization and comparison of the red blood cell membrane damage in severe human alpha- and beta-thalassemia". Blood 79, nr 4 (15.02.1992): 1058–63. http://dx.doi.org/10.1182/blood.v79.4.1058.bloodjournal7941058.

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The aim of the present work was to understand the pathophysiology of the severe human thalassemias as represented by beta-thalassemia intermedia and hemoglobin (Hb) H (alpha-thalassemia) disease. We have previously shown that the material properties of the red blood cell (RBC) and its membrane differ in severe alpha- and beta-thalassemia, and we now show that this difference is probably caused by accumulation of alpha-globin chains at the cytoskeleton in beta-thalassemia, whereas beta-globin chains are associated with the cytoskeleton in alpha- thalassemia. In both alpha- and beta-thalassemia, some of these globin chains have become oxidized as evidenced by loss of the free thiols. Furthermore, there is similar evidence of oxidation of protein 4.1 in beta-thalassemia, whereas beta-spectrin appears to be subject to oxidation in alpha-thalassemia. These observations support the idea that the association of partly oxidized globin chains with the cytoskeleton results in oxidation of adjacent skeletal proteins. The abnormality of protein 4.1 in beta-thalassemia is consistent with a prior observation, and is also in accord with the known importance of protein 4.1 in maintenance of membrane stability, a property that is abnormal in beta-thalassemic membranes.

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Santos, Daniel Garcia, Marc Mikhael, Stefano Rivella, Monika Horvathova i Prem Ponka. "Heme Oxygenase 1 Plays a Role In The Pathophysiology Of β-Thalassemia". Blood 122, nr 21 (15.11.2013): 3449. http://dx.doi.org/10.1182/blood.v122.21.3449.3449.

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Abstract Thalassemias are a heterogeneous group of red blood cell disorders ranging from a clinically severe phenotype requiring life-saving transfusions (thalassemia major) to a relatively moderate symptomatic disorder, sometimes requiring transfusions (thalassemia intermedia). Thalassemia minor, the least severe form of the disorder, is characterized by minimal to mild symptoms. While thalassemia minor and intermedia are vastly more prevalent than thalassemia major, the latter is often fatal when not treated. Though considered a major cause of morbidity and mortality worldwide, there is still no universally available cure for this severe form of thalassemia. A reason for this is at least in part due to the lack of full understanding of pathophsyiology of thalassemia. The underlying cause of pathology in thalassemia is the premature apoptotic destruction of erythroblasts causing ineffective erythropoeisis. Normally, the assembly of adult hemoglobin (consisting of a tetramer of two α- and two β-globin chains) features a very tight coordination of α- and β-globin chain synthesis. However, in β-thalassemia, β-globin synthesis is decelerated causing α-globin accumulation; while in α-thalassemia the opposite scenario occurs. Unpaired globin chains that accumulate in thalassemic erythroblasts are bound to heme. In addition, in β-thalassemia an erythroid specific protease destroys excess α-globin chains, likely leading to the generation of a pool of “free” heme in erythroblasts. “Free” heme is toxic, but this toxicity will likely be augmented, if heme oxygenase 1 (HO-1) can release iron from heme. To date, virtually no information about the expression of HO-1 in erythroblasts has been produced; however, we have recently provided unequivocal evidence that this enzyme is present in several model erythroid cells1. Based on this novel and important finding, we hypothesize that in β-thalassemic erythroblasts HO-1 mediated release of iron from heme is the major culprit responsible for cellular damage. To test this hypothesis we exploited the mouse model of β-thalassemia, th3/+. Thus far, our data indicates that HO-1 expression is increased in liver, spleen and kidney of β-thalassemic mice compared to wild type mice. Importantly, we observed that Epo-mediated erythroid differentiation of fetal liver (FL) cells isolated from β-thalassemic fetuses, display increased levels of HO-1 as well as decreased phosphorylated eiF2-α. These results indicate that β-thalassemic erythroblasts have inappropriately high levels of unbound heme that is continuously degraded by HO-1. Further research is needed to determine whether HO-1 liberated iron is responsible for the damage of β-thalassemic erythroblasts. 1Garcia Santos D, Schranzhofer M, Bogo Chies JA, Ponka P. Heme Oxygenase 1 plays an unexpected role during erythroid differentiation. Blood (ASH Annual Meeting Abstracts) 118: 344, 2011. Disclosures: No relevant conflicts of interest to declare.

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Schrier, SL, E. Rachmilewitz i N. Mohandas. "Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations". Blood 74, nr 6 (1.11.1989): 2194–202. http://dx.doi.org/10.1182/blood.v74.6.2194.2194.

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Abstract To define how excess unpaired alpha- and beta-globin chains in severe beta-thalassemia and severe alpha-thalassemia interacting with the membrane might alter cellular and membrane properties, we performed a series of biophysical and biochemical analyses on erythrocytes obtained from affected patients. Detailed analysis of cellular and membrane deformability characteristics showed that both forms of thalassemic erythrocytes have excess surface area in relation to cell volume and increased membrane dynamic rigidity. The deformability characteristics of thalassemic erythrocytes in hypertonic media differed significantly from that of normal erythrocytes of identical cell density. These findings suggest that dynamic rigidity of thalassemic erythrocytes is influenced not only by cytoplasmic viscosity determined by cell hemoglobin concentration but also by the extent and type of globin interacting with the membrane. In contrast to the above-noted similarities, major differences were noted in the mechanical stability of the alpha- and beta-thalassemic membranes and in their state of cell hydration. While the mechanical stability of alpha-thalassemic membranes was normal or marginally elevated, the stability of beta- thalassemic membranes was markedly decreased to half the normal value. Cell-density analysis showed that the alpha-thalassemic erythrocytes were uniformly less dense than normal, while beta-thalassemic erythrocytes had a broad-density distribution, with all populations having both lower and higher than normal density values, implying cellular dehydration in beta-thalassemia and not in alpha-thalassemia. Membrane-protein analysis revealed that excess globin chains were bound to the membrane skeletons of both alpha- and beta-thalassemic erythrocytes, with the highest amounts being found in membrane skeletons derived from erythrocytes of splenectomized individuals with beta-thalassemia intermedia. These data demonstrate that interaction of excess alpha- and beta-globin chains with membranes produces different cellular changes and suggest that the observed differences in the pathophysiology of alpha- and beta-thalassemias may be related to different cellular effects induced by the excess in beta- and alpha- globin chains.

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Schrier, SL, E. Rachmilewitz i N. Mohandas. "Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations". Blood 74, nr 6 (1.11.1989): 2194–202. http://dx.doi.org/10.1182/blood.v74.6.2194.bloodjournal7462194.

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To define how excess unpaired alpha- and beta-globin chains in severe beta-thalassemia and severe alpha-thalassemia interacting with the membrane might alter cellular and membrane properties, we performed a series of biophysical and biochemical analyses on erythrocytes obtained from affected patients. Detailed analysis of cellular and membrane deformability characteristics showed that both forms of thalassemic erythrocytes have excess surface area in relation to cell volume and increased membrane dynamic rigidity. The deformability characteristics of thalassemic erythrocytes in hypertonic media differed significantly from that of normal erythrocytes of identical cell density. These findings suggest that dynamic rigidity of thalassemic erythrocytes is influenced not only by cytoplasmic viscosity determined by cell hemoglobin concentration but also by the extent and type of globin interacting with the membrane. In contrast to the above-noted similarities, major differences were noted in the mechanical stability of the alpha- and beta-thalassemic membranes and in their state of cell hydration. While the mechanical stability of alpha-thalassemic membranes was normal or marginally elevated, the stability of beta- thalassemic membranes was markedly decreased to half the normal value. Cell-density analysis showed that the alpha-thalassemic erythrocytes were uniformly less dense than normal, while beta-thalassemic erythrocytes had a broad-density distribution, with all populations having both lower and higher than normal density values, implying cellular dehydration in beta-thalassemia and not in alpha-thalassemia. Membrane-protein analysis revealed that excess globin chains were bound to the membrane skeletons of both alpha- and beta-thalassemic erythrocytes, with the highest amounts being found in membrane skeletons derived from erythrocytes of splenectomized individuals with beta-thalassemia intermedia. These data demonstrate that interaction of excess alpha- and beta-globin chains with membranes produces different cellular changes and suggest that the observed differences in the pathophysiology of alpha- and beta-thalassemias may be related to different cellular effects induced by the excess in beta- and alpha- globin chains.

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Garcia-Santos, Daniel, Amel Hamdi, Zuzana Zidova, Monika Horvathova i Prem Ponka. "Heme Oxygenase 1 Inhibition Reverses Anemia in β-Thalassemia Mice". Blood 128, nr 22 (2.12.2016): 2462. http://dx.doi.org/10.1182/blood.v128.22.2462.2462.

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Abstract Thalassemias are a heterogeneous group of red blood cell (RBC) disorders ranging from a clinically severe phenotype requiring lifesaving transfusions (thalassemia major) to a relatively moderate symptomatic disorder, sometimes requiring transfusions (thalassemia intermedia). Though considered a major cause of morbidity and mortality worldwide, there is still no universally available cure for thalassemia major. The reason for this is, at least in part, due to the lack of full understanding of pathophysiology of thalassemia. The underlying basis of thalassemia pathology is the premature apoptotic destruction of erythroblasts causing ineffective erythropoeisis. In β-thalassemia, β-globin synthesis is diminished causing α-globin accumulation. Unpaired globin chains that accumulate in thalassemic erythroblasts are bound to heme. Moreover, in β-thalassemia an erythroid-specific protease destroys excess α-globin chains, likely leading to the generation of a pool of "free" heme in erythroblasts. Physiologically, heme can be degraded only via heme oxygenases (HO). Circulating erythrocytes contain the majority of heme destined for catabolism; this process takes place primarily in splenic and hepatic macrophages following erythrophagocytosis of senescent RBC. Heme oxygenase, in particular its heme-inducible isoform HO1, has been extensively studied in hepatocytes and many other non-erythroid cells. Recently, we have provided unequivocal evidence that this enzyme is present in erythroid progenitors as well as their differentiated progenies.1 "Unshielded" heme is toxic, but this toxicity will likely be augmented, if HO1 releases iron from heme. We hypothesize that in β-thalassemic erythroblasts HO1-mediated release of iron from heme is the major culprit responsible for cellular damage. Additionally, it has been shown that prevention of heme-derived iron release from splenic and hepatic macrophages improves β-thalassemia phenotype2. Therefore, suppression of HO1-mediated heme catabolism from senescent RBC could be beneficial in reversing thalassemic phenotype. To test this hypothesis, we exploited the mouse model of β-thalassemia known as th3/th3; we obtained these mice from Dr. Stefano Rivella. Our data indicates that HO1 expression is increased in the liver of β-thalassemic mice as compared to wild type mice. Importantly, we observed that erythropoietin-mediated erythroid differentiation of fetal liver (FL) cells from β-thalassemic fetuses increased HO1 mRNA and protein levels to a higher degree than in their wild type counterparts. Ferritin levels were increased in β-thalassemic FL cells suggesting increased heme catabolism and iron release from the tetrapyrrole macrocycle. To investigate the contribution of HO1 to the pathology associated with β-thalassemia, wild type and thalassemic (th3/+) mice were injected intraperitoneally with 40 µmoles/kg/d of tin-protoporphyrin IX (SnPP, HO inhibitor) during a 4-weeks, 3-times a week. Our results show that β-thalassemic mice injected with SnPP have increased hemoglobin levels and red blood cell counts, and display a decrease in the spleen index, reticulocyte counts and liver iron content when compared to PBS-injected β-thalassemic mice. Furthermore, while hepcidin levels remain unchanged, liver ferroportin expression decreases in SnPP-injected β-thalassemic mice. Our results indicate that β-thalassemic erythroblasts have high levels of HO1, which would be expected to degrade any "free" heme. Further research is needed to determine whether iron liberated from heme by HO1 is directly responsible for the damage of β-thalassemic erythroblasts. 1GarciaSantos D, et al. Heme oxygenase 1 is expressed in murine erythroid cells where it controls the level of regulatory heme. Blood 123 (14): 226977, 2014. 2Nai A, et al. Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. Blood 119 (21): 5021, 2012. Disclosures No relevant conflicts of interest to declare.

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Garcia dos Santos, Daniel, Zuzana Zidova, Marc Mikhael, Amel Hamdi, Monika Horvathova i Prem Ponka. "Pathophysiology and Treatment of Beta-Thalassemia: Investigations of Heme Oxygenase 1 and Its Inhibitors". Blood 126, nr 23 (3.12.2015): 3373. http://dx.doi.org/10.1182/blood.v126.23.3373.3373.

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Abstract Thalassemias are a heterogeneous group of red blood cell disorders ranging from a clinically severe phenotype requiring life-saving transfusions (thalassemia major) to a relatively moderate symptomatic disorder, sometimes requiring transfusions (thalassemia intermedia). Thalassemia minor, the least severe form of the disorder, is characterized by minimal to mild symptoms. Though considered a major cause of morbidity and mortality worldwide, there is still no universally available cure for thalassemia major. The reason for this is, at least in part, due to the lack of full understanding of pathophysiology of thalassemia. The underlying basis of thalassemia pathology is the premature apoptotic destruction of erythroblasts causing ineffective erythropoeisis. Normally, the assembly of adult hemoglobin (consisting of a tetramer of two α- and two β-globin chains) features a very tight coordination of α- and β-globin chain synthesis. However, in β-thalassemia, β-globin synthesis is diminished causing α-globin accumulation; while in α-thalassemia the opposite scenario occurs. Unpaired globin chains that accumulate in thalassemic erythroblasts are bound to heme. In addition, in β-thalassemia an erythroid specific protease destroys excess α-globin chains, likely leading to the generation of a pool of "free" heme in erythroblasts. "Unshielded" heme is toxic, but this toxicity will likely be augmented, if heme oxygenase 1 (HO-1) can release iron from heme. So far, virtually no information about the expression of HO-1 in erythroblasts has been produced. However, we have recently provided unequivocal evidence that this enzyme is present in several model erythroid cells1. Based on this novel and important finding, we hypothesize that in β-thalassemic erythroblasts HO-1-mediated release of iron from heme is the major culprit responsible for cellular damage. To test this hypothesis, we exploited the mouse model of β-thalassemia known as th3/th3. Our data indicates that HO-1 expression is increased in the liver, spleen and kidney of β-thalassemic mice compared to wild-type mice. Importantly, we observed that erythropoietin-mediated erythroid differentiation of fetal liver (FL) cells isolated from β-thalassemic fetuses have increased levels of HO-1 at mRNA and protein levels as well as a decrease in phosphorylated eIF2-α levels. Ferritin levels were increased in β-thalassemic FL cells suggesting increased heme catabolism and iron release. To investigate the contribution of HO-1 to the pathology associated with β-thalassemia, wild-type and thalassemic (th3/+) mice were injected with 40 µmoles/kg/d of tin-protoporphyrin IX (SnPP, HO-1 inhibitor) during a 4-week period, 3 times a week. Our results show that β-thalassemic mice injected with SnPP display a decrease in the spleen index, hemoglobin levels, red blood cell counts, reticulocyte counts and liver iron content when compared to PBS injected β-thalassemic mice. Additionally, HO-1 inhibition reduced ineffective erytropoiesis in β-thalassemia mice. Our results indicate that β-thalassemic erythroblasts have inappropriately high levels of "free" heme that is continuously degraded by HO-1. Further research is needed to determine whether iron liberated from heme by HO-1 is directly responsible for the damage of β-thalassemic erythroblasts. 1Garcia-Santos D, et al. Heme oxygenase 1 is expressed in murine erythroid cells where it controls the level of regulatory heme. Blood 123 (14): 2269-77, 2014. Disclosures No relevant conflicts of interest to declare.

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Garcia-Santos, Daniel, Marc Mikhael, Monika Horvathova i Prem Ponka. "Uncovering the Role of Heme Oxygenase 1 in the Pathophysiology of β-Thalassemia". Blood 124, nr 21 (6.12.2014): 1364. http://dx.doi.org/10.1182/blood.v124.21.1364.1364.

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Abstract Thalassemias are a heterogeneous group of red blood cell disorders ranging from a clinically severe phenotype requiring life-saving transfusions (thalassemia major) to a relatively moderate symptomatic disorder, sometimes requiring transfusions (thalassemia intermedia). Thalassemia minor, the least severe form of the disorder, is characterized by minimal to mild symptoms. While thalassemia minor and intermedia are vastly more prevalent than thalassemia major, the latter is often fatal when not treated. Though considered a major cause of morbidity and mortality worldwide, there is still no universally available cure for this severe form of thalassemia. A reason for this is at least in part due to the lack of full understanding of pathophsyiology of thalassemia. The underlying cause of pathology in thalassemia is the premature apoptotic destruction of erythroblasts causing ineffective erythropoeisis. Normally, the assembly of adult hemoglobin (consisting of a tetramer of two α- and two β-globin chains) features a very tight coordination of α- and β-globin chain synthesis. However, in β-thalassemia, β-globin synthesis is decelerated causing α-globin accumulation; while in α-thalassemia the opposite scenario occurs. Unpaired globin chains that accumulate in thalassemic erythroblasts are bound to heme. In addition, in β-thalassemia an erythroid specific protease destroys excess α-globin chains, likely leading to the generation of a pool of “free” heme in erythroblasts. “Free” heme is toxic, but this toxicity will likely be augmented, if heme oxygenase 1 (HO-1) can release iron from heme. To date, virtually no information about the expression of HO-1 in erythroblasts has been produced; however, we have recently provided unequivocal evidence that this enzyme is present in several model erythroid cells1. Based on this novel and important finding, we hypothesize that in β-thalassemic erythroblasts HO-1 mediated release of iron from heme is the major culprit responsible for cellular damage. To test this hypothesis we exploited the mouse model of β-thalassemia, th3/th3. Thus far, our data indicates that HO-1 expression is increased in liver, spleen and kidney of β-thalassemic mice compared to wild type mice. Importantly, we observed that Epo-mediated erythroid differentiation of fetal liver (FL) cells isolated from β-thalassemic fetuses, display increased levels of HO-1 at mRNA and protein levels as well as decreased phosphorylated eiF2-α. Ferritin levels are also increased in these cells suggesting increased heme catabolism and iron release. Altogether, these results indicate that β-thalassemic erythroblasts have inappropriately high levels of unbound heme that is continuously degraded by HO-1. Further research is needed to determine whether HO-1 liberated iron is responsible for the damage of β-thalassemic erythroblasts. 1Garcia-Santos D, et al. Heme oxygenase 1 is expressed in murine erythroid cells where it controls the level of regulatory heme. Blood 123 (14): 2269-77, 2014. Disclosures No relevant conflicts of interest to declare.

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Passat, Jimmy, Bulan Ginting Munthe, Fauzi Mahfuzh i Taralan Tambunan. "Brainstem auditory evoked potentials features in thalassemia major". Paediatrica Indonesiana 41, nr 3 (30.06.2001): 166. http://dx.doi.org/10.14238/pi41.3.2001.166-70.

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Patients with thalassemia major are at high risk for hearing impairment. The objective of the study is to determine the prevalence, grade and type of hearing impairment according to brainstem auditory evoked potentials (BAEP) investigation in thalassemia major. A descriptive cross sectional study was conducted between December 1999 until August 2000 in 72 thalassemic patients between 3 and 18 years of age. Only 65 patients were evaluated, because of time limitation. The results showed the prevalence of hearing impairment in thalassemia major was 29.2%. Most of them were moderate to severe unilateral sensorineural hearing impairments. Mild sensorienural hearing impairment occured in only 12.3%. Conductive hearing impairment was only found in 1 patient. Hearing impairment was frequently found between 7 to 12 years of age (41.5%). Conclusion: the prevalence of hearing impairment in thalassem a major according to BAEP investigation is high and BAEP examination should be done regularly in all of thalassemic patients to investigate early detection and treatment of hearing impairment.

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Shinar, E., O. Shalev, EA Rachmilewitz i SL Schrier. "Erythrocyte membrane skeleton abnormalities in severe beta-thalassemia". Blood 70, nr 1 (1.07.1987): 158–64. http://dx.doi.org/10.1182/blood.v70.1.158.158.

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Abstract The protein composition of ghosts, inside-out vesicles (IOV), and membrane skeletons (MS) of erythrocytes (RBC) from splenectomized (spx) and nonsplenectomized (non-spx) patients with beta-thalassemia major and beta-thalassemia intermedia was determined. Ghosts from spx thalassemia intermedia patients had a significant increase in their globin content (which was mostly heme reactive) and contained extra polypeptides in the protein 4.2 to 5 and 6-globin areas. The Triton- extracted MS from all of the thalassemic patients showed two major abnormalities: they retained up to twice the amount of protein 3 when compared with controls; they had a significant increase in their globin content, the concentration of which was independent of their protein 3 content. Analysis of the IOV revealed no differences between those prepared from normal controls and those of the patients. MS from spx thalassemia intermedia patients were grossly abnormal when examined by scanning electron microscopy and they exhibited aggregates of material that on transmission electron microscopy suggested the presence of globin precipitates. We propose that, although the integral protein composition, as reflected in the IOV, from severely affected beta- thalassemics is intact, their MS assembly is deranged. The altered skeletal structure of thalassemic RBC could result from attachment of denatured globin to the skeleton components. These abnormalities may contribute to the premature cell death seen in severe beta-thalassemia.

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Shinar, E., O. Shalev, EA Rachmilewitz i SL Schrier. "Erythrocyte membrane skeleton abnormalities in severe beta-thalassemia". Blood 70, nr 1 (1.07.1987): 158–64. http://dx.doi.org/10.1182/blood.v70.1.158.bloodjournal701158.

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The protein composition of ghosts, inside-out vesicles (IOV), and membrane skeletons (MS) of erythrocytes (RBC) from splenectomized (spx) and nonsplenectomized (non-spx) patients with beta-thalassemia major and beta-thalassemia intermedia was determined. Ghosts from spx thalassemia intermedia patients had a significant increase in their globin content (which was mostly heme reactive) and contained extra polypeptides in the protein 4.2 to 5 and 6-globin areas. The Triton- extracted MS from all of the thalassemic patients showed two major abnormalities: they retained up to twice the amount of protein 3 when compared with controls; they had a significant increase in their globin content, the concentration of which was independent of their protein 3 content. Analysis of the IOV revealed no differences between those prepared from normal controls and those of the patients. MS from spx thalassemia intermedia patients were grossly abnormal when examined by scanning electron microscopy and they exhibited aggregates of material that on transmission electron microscopy suggested the presence of globin precipitates. We propose that, although the integral protein composition, as reflected in the IOV, from severely affected beta- thalassemics is intact, their MS assembly is deranged. The altered skeletal structure of thalassemic RBC could result from attachment of denatured globin to the skeleton components. These abnormalities may contribute to the premature cell death seen in severe beta-thalassemia.

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Barua, Tanuka, Dazy Barua, Dhananjoy Das, Rupam Talukdar, Razia Sultana i Mahmood A. Chowdhury Arzu. "Knowledge and Awareness of Parents Toward Thalassemia". Chattagram Maa-O-Shishu Hospital Medical College Journal 20, nr 1 (25.05.2021): 12–15. http://dx.doi.org/10.3329/cmoshmcj.v20i1.53580.

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Background: Thalassemias are the most common heritable blood disorders that represents a major public concern. Poor awareness and lack of knowledge lead to increase number of carrier that is a silent reservoir of the disease. To observe the knowledge and awareness level of parents of thalassemic children about the disease. Materials and methods: This descriptive cross-sectional study was conducted in the Thalassemia ward of Chattogram Maa Shishu-O-General Hospital, Chattogram from July 2013 to June, 2014. Parents of 70 thalassemia patients aged 2-18 years interviewed with a formulated questionnaire based on knowledge status and awareness level of parents towards thalassemia. Data were analyzed by both manually and by SPSS-18. Results: Majority of patients were from rural background (54.3%). Only 8.6% parents were consanguineous parents and majority of them completed only secondary education. 44.3% resolved it as inherited disorder. 52.9% resolved thalassemia cannot be cured. Only 24.3% regarded bone marrow transplantation as a measure of cure. More than half (55.7%) did not know how to prevent thalassemia. Only 37.1% knew about prenatal diagnosis. Carrier status of both father and mother were unknown in majority of patients (80%) and screening of sibs was not done at all in a significant number of patients (51.5%). Only 34.3% wanted to do prenatal diagnosis after conception and 65.7% parents were ready to accept therapeutic abortion if fetus would be diagnosed as thalassemia by prenatal diagnosis. Conclusion: Knowledge level and awareness of parents of thalassemic child regarding the disease is unsatisfactory. To reduce disease burden an awareness program regarding the disease and its prevention covering premarital screening, acceptance of prenatal diagnosis and therapeutic abortion is essential. Chatt Maa Shi Hosp Med Coll J; Vol.20 (1); January 2021; Page 12-15

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Ridha Sp. A(K), M.Kes, Dr dr Nadirah Rasyid, Johan Gautama i Idham Jaya Ganda. "ANALYSIS OF VITAMIN D LEVELS IN CHILDREN WITH THALASSEMIA BETA". International Journal of Health Science & Medical Research 1, nr 1 (25.02.2022): 46–60. http://dx.doi.org/10.37905/ijhsmr.v1i1.13585.

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Background : Beta Thalassemia is a genetic disorder inherited by autosomal recessive and has spread throughout the world, including Indonesia. Beta thalassemia requires lifelong transfusions, which can cause an accumulation of iron in the skin, liver, and kidneys, resulting in a decrease in vitamin D synthesis.Purpose : This study aims to analyze the levels of 25-OH-Vitamin D in beta thalassemia.Method : This study used a cross-sectional design and was conducted at Dr. Wahidin Sudirohusodo Hospital from April to July 2021. The population of this study was patients diagnosed with beta thalassemia and non-thalassemia (controls) who met inclusion criteria. This study compared vitamin D levels in beta thalassemia and non-thalassemia patients.Results : This study involved 60 children aged 6 months to 18 years, who were divided into 2 groups: 30 children in the beta thalassemia group and 30 in the non-thalassemia group. In this study, the levels of 25-OH-Vitamin D were lower in beta thalassemia children compared to non-thalassemic children, with a p value =0.012. Children with beta-thalassemia have a 4.33 times higher risk of vitamin D deficiency compared to non-thalassemic children. With a p value =0.023, 25-OH-Vitamin D levels were significantly lower in beta HbE thalassemia children compared to beta thalassemia major children.Conclusion :Levels of 25-OH-Vitamin D in beta thalassemia children were lower than in non-thalassemic children. Levels of 25-OH-Vitamin D in children with beta HbE thalassemia are lower than in children with beta thalassemia major.

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Syed Muhammad Ali, Syed Mahmood Haider, Kashif Ikram, Uzair Ahmed, Sana Ahmed i Raza Ali. "Craniofacial growth Pattern of Thalassemia Major Patients in the haematological institutes of populations of Karachi Pakistan." Professional Medical Journal 31, nr 06 (31.05.2024): 988–93. http://dx.doi.org/10.29309/tpmj/2024.31.06.7704.

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Objective: To look at patients with -thalassemia's skeletal patterns. Study Design: Cross sectional, Observational. Setting: Karachi Medical and Dental College, Baqai Dental College Baqai Medical University, Husaini Institute of Heamatological Studies and Fatmid Foundation. Study Period: 2012 to 2020. Methods: Fifty patients with major thalassemia were voluntarily chosen at random, and 50 lateral cephalometric X-rays were taken using the Steiner Analysis inclusion criteria major Thalassemia Patient under 35 without any systemic disorders. exclusion criterion any additional forms of thalassemia, as well as other systemic illnesses such as heart disease, diabetes, and down syndrome, patient age is greater than 35. Results: Patients with 50 thalassemic patients have an average ANB angle of 4.8 degree. No patients fit into Skeletal Class III, as indicated by the ANB ranges for 21 (42%) patients being between 2 and 2 o (0 to 4 o) and for 29 (58%) patients being above 4 o degree. Conclusion: 42% of beta thalassemia patients with Class 1 skeletal and orthoganathism. In 58% of cases, Class II and mandibular retroganathism are present. and there were no patients in skeletal class III found. The effects of anemia are less severe in patients from Karachi's thalassemia community.

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Tritipsombut, Jaruwan, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam i Pattara Sanchaisuriya. "Hemoglobin Profiles and Hematologic Features of Thalassemic Newborns: Application to Screening of α-Thalassemia 1 and Hemoglobin E". Archives of Pathology & Laboratory Medicine 132, nr 11 (1.11.2008): 1739–45. http://dx.doi.org/10.5858/132.11.1739.

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Abstract Context.—Thalassemia and hemoglobinopathies are major public health problems worldwide. To establish a cost-effective screening tool for newborns in regions where the incidence of these disorders is significant, study of the hemoglobin and hematologic features of normal and thalassemic newborns is necessary. Objective.—To study hemoglobin and hematologic characteristics of normal and various thalassemic newborns and to assess the effectiveness of simple screening methods for α-thalassemia 1 and hemoglobin E. Design.—Study was made of 402 cord blood specimens collected from unrelated Thai individuals. Hematologic parameters and hemoglobin profiles were determined. Thalassemia mutations were identified using polymerase chain reaction–related techniques. Results.—As many as 178 subjects (44.3%) were found to carry thalassemia genes with 18 different genotypes. All forms of α-thalassemia including double heterozygote for hemoglobin E and α-thalassemia showed significant reduction in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin with increasing trend of red blood cell as compared with a non–α-thalassemic group. Although heterozygous hemoglobin E and β-thalassemia showed no hematologic difference from nonthalassemic group, heterozygous α-thalassemia 1 including those with hemoglobin E showed significant increase in hemoglobin Bart level. Conclusions.—Based on these findings, effective primary screening with 100% accuracy for α-thalassemia 1 and hemoglobin E in newborns in the region could be carried out using mean corpuscular volume less than 95 fL, mean corpuscular hemoglobin less than 30 pg, or hemoglobin Bart greater than 8.0% and hemoglobin E greater than 0.5%, respectively.

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Șeicaru, D., Dorina Constantinescu, Corina Frecus i D. Bulucea. "Heterozygous Beta-Thalassemia, A Genetic Haemolytic Anaemia In Continuous Expansion". Acta Medica Marisiensis 59, nr 3 (1.06.2013): 154–57. http://dx.doi.org/10.2478/amma-2013-0036.

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Abstract Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the "defective gene" in the population, favoring the appearance of new cases of Cooley's anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world's population is bearing β-thalassemia, over 400,000 children with β thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years. Material and methods: We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001-2010), out of which we analyzed the family tree of 10 cases throughout 3-4 generations, starting from the cases of children diagnosed with β-thalassemia. Results: The number of heterozygous subjects that emerged over 3-4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley's anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/ grandmothers) along 3-4 generations (over a period of 70-80 years) the number of new β-thalassemia cases was 5.4 times higher. Conclusions: According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population.

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Yeni, Hervita, Finny Fitry Yani, Amirah Zatil Izzah i Gustina Lubis. "Relationship between serum ferritin and zinc levels in patients with major thalassemia". Paediatrica Indonesiana 59, nr 3 (19.06.2019): 144–9. http://dx.doi.org/10.14238/pi59.3.2019.144-9.

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Background In thalassemia patients, reduced zinc absorption results from increased serum iron due to repeated blood transfusions, increased iron absorption due to ineffective erythropoiesis, and competitive inhibition between iron and zinc in binding to transferrin, a means of transporting both types of minerals in the blood. Few studies have been done to examine zinc levels in thalassemia patients and its relationship with ferritin. Objective To compare serum zinc in thalassemia patients and healthy controls and to assess for a possible correlation between serum ferritin and zinc in thalassemia patients. Methods This cross-sectional study in 68 subjects was done from October 2016 to August 2017. Serum ferritin measured by chemiluminescence immunoassay and serum zinc by inductively coupled plasma mass spectrometry (ICP-MS). Wilcoxon test was used to analyze for differences between serum zinc in thalassemia patients and controls. Spearman’s correlation test was used to analyze for a possible correlation between ferritin and serum zinc in thalassemia patients. Results There were 34 patients with thalassemia and 34 healthy control subjects. The median serum zinc was 119.34 µg/dL (IQR=71.27) in the thalassemia group and 120.08 µg/dL (IQR=26.28) in the control group (P=0.36). There was no significant correlation between serum ferritin and zinc in thalassemic children (r=-0.023; P=0.895). Conclusion There is no significant difference in serum zinc levels between thalassemic children and healthy controls. There is no significant correlation between serum ferritin and zinc in thalassemic children.

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Hsieh, Hsin-Yi, Lin-Chi Huang, Hong-Ren Yu, Kuang-Che Kuo, Wan-Hsuan Chen, Chung-Hao Su, Chuan-Pin Lee, Ko-Jung Chen, Yao-Hsu Yang i Jiunn-Ming Sheen. "Pediatric thalassemic patients have higher incidence of asthma: A nationwide population-based retrospective cohort study". PLOS ONE 16, nr 11 (4.11.2021): e0258727. http://dx.doi.org/10.1371/journal.pone.0258727.

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Introduction Patients with hemoglobinopathies have been reported to have higher rates of pulmonary complications. Few studies have investigated the association between thalassemia and asthma in children. Methods We used the data of one million individuals randomly selected from the Registry for Beneficiaries of the National Health Insurance Research Database. One thalassemic child was matched with four control children without thalassemia according to sex, birth year, birth season, prematurity, and previous enteroviral infection. Results A total of 800 hundred thalassemic children and 3200 controls were included. Children with thalassemia had higher rates of developing asthma (41.81 vs 25.70 per 1000 person-years, P < 0.001) than the non-thalassemia controls with an adjusted hazard ratio of 1.37 (95% confidence interval [CI] = 1.19–1.58). Boys in the thalassemia cohort had a significantly higher adjusted incidence hazard ratio (IRR) of asthma than those in the non-thalassemia cohort (adjusted IRR = 1.45, 95% CI = 1.02–1.73). The risk of atopic and nonatopic asthma was higher in the thalassemia cohort than in the non-thalassemia cohort (IRR = 1.3, 1.61, respectively). Conclusions Children with thalassemia were more likely to develop asthma. More attention should be paid to the early diagnosis of asthma and prevention of asthma attacks.

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Abdullah, Dr Kahtan Adnan, Dr Mohammed Ahmed Jassim Alogaidi i Dr Raed Jabbar Hussain. "Study Tanner staging of β- thalassemic patients attending thalassemic Center in Ibn Al-Atheer Teaching Pediatric Hospital". Journal of University of Shanghai for Science and Technology 23, nr 11 (22.11.2021): 583–89. http://dx.doi.org/10.51201/jusst/21/11944.

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Purpose: determine any relationship between tanner staging of the patients and transfusion program, iron overload and chelation therapy and study tanner staging of β- thalassemic patients attending Thalassemic Center in Ibn Al-Atheer Teaching Pediatric Hospital. Patients and Methods: A descriptive-analytic study (case series study) was done on β- thalassemic patients attending Thalassemia Center in Ibn Al- Atheer Teaching Hospital in Mosul, during the period from the 1st of January to the 30th of June 2019.Sixty patients with β- thalassemia, 45 of them are β- thalassemia major cases and 15 are β- thalassemia intermedia cases. The patients of the major type were sub-classified into 3 groups according to their ages: Group 1, Patients from the age of ≥ 13 years; Group 2, Patients from the age of 14 years to 16 years and Group 3, Patients from the age of more than 17 years. Results: current study showed male (77.78, 66.67) % more than female (22.22; 33.33) % in both types of thalassemia (Major and Intermedia) respectively.so the most of the patients in this study live in urban areas (58.33%) and (41.67%) in rural areas, mean age at diagnosis of thalassemia major was 7.16 months, Delayed tanner staging was found in 64.44% of patients with thalassemia major, while in thalassemia intermedia only 33.33% were considered to be on a delayed stage. as well as 4(80%) of Tanner Stage (II) for pateints in age group (≥ 13) years compare to 20% for stage (III), so 50% for both stage (II and III) respectively in age group (14-16) years. Conclusion: Two-third of the patients with thalassemia major had delayed puberty (64.44%), while one- third of the patients with thalassemia intermedia had delayed pubertal development (33.33%).

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Ittarat, Wanida, Sornchai Looareesuwan, Pensri Pootrakul, Petchmanee Sumpunsirikul, Phantip Vattanavibool i Steven R. Meshnick. "Effects of α-Thalassemia on Pharmacokinetics of the Antimalarial Agent Artesunate". Antimicrobial Agents and Chemotherapy 42, nr 9 (1.09.1998): 2332–35. http://dx.doi.org/10.1128/aac.42.9.2332.

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ABSTRACT Thalassemia is common in Southeast Asia, where artemisinin derivatives are frequently used in the treatment of malaria. It has been previously reported that artemisinin derivatives can be concentrated by uninfected thalassemic erythrocytes in vitro but not by normal erythrocytes. As a follow-up to this report, we studied the antimalarial kinetics of intravascular artesunate (2.4 mg/kg of body weight) in 10 persons with normal hemoglobins and in 10 patients with thalassemia (2 with α-thalassemia type 1–hemoglobin Constant Spring and 8 with α-thalassemia type 1–α-thalassemia type 2). Concentrations of artesunate and its active metabolites in plasma were measured by bioassay and expressed relative to those of dihydroartemisinin, the major biologically active metabolite. Concentrations of intravascular artesunate in plasma peaked in both the normal individuals and the thalassemic individuals 15 min after injection (the first time point). Plasma drug concentrations at all time intervals, except that at 1 h, were significantly higher in thalassemic subjects than in normal subjects (P < 0.05). The area under the concentration-time curve was 9-fold higher (P < 0.001) and the volume of distribution at steady state was 15-fold lower (P < 0.001) in thalassemic than in normal subjects. In light of the potential neurotoxicity of artemisinin derivatives, these results suggest that thalassemic subjects may need a drug administration regimen different from that of normal patients.

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MN, Islam, Kamruzzaman M, Sarker MH, Riaaz R i Ilhan NS. "“The Parental Perspective of Thalassemia in Bangladesh: Challenges for Prevention and Management of Thalassemia”". Scholars Journal of Applied Medical Sciences 12, nr 05 (3.05.2024): 519–27. http://dx.doi.org/10.36347/sjams.2024.v12i05.003.

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Introduction: Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, poses significant challenges for families worldwide. In Bangladesh, where the prevalence of thalassemia is notable, parents face unique hurdles in both preventing and managing this condition. Aim of the study: The aim of this study is to explore the parental perspective of thalassemia in Bangladesh, focusing on the challenges faced in the prevention and management of the disease. Methods: This was a cross section retrospective study conducted in the Department of Paediatrics of M Abdur Rahim Medical College, Dinajpur, Bangladesh during the period from June 2023 to December 2023. Result: Among the total of 320 caregivers, 46.9% were father, while 53.1% were mother respectively. Minority 14.1% of marriages were consanguineous, while the majority (85.9%) was not. The majority (82.8%) of respondents had one thalassemic child, while 17.2% had two or more thalassemic children. Before the diagnosis of thalassemia in their child, 90.9% of respondents had not heard about thalassemia. All respondents (100%) reported not undergoing thalassemia screening before marriage. The median age at diagnosis of thalassemia among the participants was 1.32 years. Beta thalassemia was diagnosed in 30.6% of the participants, while 68.8% had E-beta thalassemia. The majority 65.9% of respondents correctly identified thalassemia as a genetic disease, while 22.5% provided an incorrect response. Conclusion: Thalassemia presents significant challenges for affected individuals and their families in Bangladesh, ranging from limited access to diagnostic services and blood transfusions to social stigma and financial burdens.

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Apostoli, Anthony, Amanda Cipolla, Maureen Kinghorn, Jacob Kaufman, Giulia Muraca i Nancy Olivieri. "Pregnancy in Thalassemia Patients and Their Partners in a Canadian Population." Blood 106, nr 11 (16.11.2005): 3835. http://dx.doi.org/10.1182/blood.v106.11.3835.3835.

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Abstract Although successful pregnancy is not an uncommon outcome in patients with homozygous beta thalassemia over the last 20 years, most of these have been reported in case reports and small series, while many publications do not appear to distinguish between pregnancies in thalassemia intermedia and those in thalassemia major. For example, of the total of 150 pregnancies in women with thalassemia reported in the literature from 1984 to 2004, 74 pregnancies appear clearly to be documented in patients with thalassemia major, while in the other 76, a reportedly late onset of transfusions suggests a milder phenotype of thalassemia intermedia. We examined the records of all thalassemia patients managed at the Toronto General Hospital, Canada (n = 82 patients with thalassemia major; 23 patients with thalassemia intermedia; 7 patients with hemoglobin E thalassemia = 112 patients over 18 years, of whom 54 are female) to determine the incidence and complications of pregnancy in our population. A surprisingly high number (17) and proportion (31%) of all female thalassemia patients over age 18 years have attempted to become pregnant. A total of 14 (82% of those who attempted pregnancy) of patients (9 thalassemia major; 4 thalassemia intermedia; 1 Hemoglobin E thalassemia) successfully conceived 26 times. The maternal age at first attempt to become pregnant was 29.6 ± 4.9 (range 18–37) years; average age at delivery was 27.2 ± 4.1 (range 19–33) years. Of the 26 conceptions, 20 were carried to term; 19 live births resulted. Six abortions and one fetal death occurred. Deferoxamine was avoided in all patients during pregnancy; control of body iron was followed using hepatic iron concentration. Pre-pregnancy hepatic iron concentration, obtained 2.8 ± 1.8 (range 1–7) years prior to conception, was 9.3 ± 7.9 (range 0.9–31) mg/gram dry weight; post partum hepatic iron concentration, obtained 3 ± 3.2 (range 0.2–10) years following parturition, was 17.4 ± 9.6 (range 1.25–32.5) mg/gram dry weight. There were one reported significant worsening in cardiac function during pregnancy; diabetes (present in one woman prior to pregnancy) developed in another woman during pregnancy. Other complications occurring or worsening during pregnancy included immune thrombocytopenic purpura and post- transfusional thrombocytopenia. In 13 of the 58 men in this population, 13 (8 with thalassemia major; 4 with thalassemia intermedia and one with Hemoglobin E thalassemia) fathered 20 children at 33.5 ± 4.8 (range 24–44) years. These data report the largest North American series of pregnancy in thalassemics and their partners and while raising issues of the safety of pregnancy in thalassemic women offer encouragement to those patients managed with adequate control of body iron burden.

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Perrine, Susan P. "Fetal Globin Induction—Can It Cure β Thalassemia?" Hematology 2005, nr 1 (1.01.2005): 38–44. http://dx.doi.org/10.1182/asheducation-2005.1.38.

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Abstract The β thalassemias are one of a few medical conditions in which reactivation of a gene product that is expressed during fetal life can functionally replace a deficiency of essential proteins expressed at a later developmental stage. The fetal globin genes are present and normally integrated in hematopoietic stem cells, and at least one fetal gene appears accessible for reactivation, particularly in β° thalassemia. However, rapid cellular apoptosis from α globin chain precipitation, and relatively low levels of endogenous erythropoietin (EPO) in some β+ thalassemia patients contribute to the anemia in β thalassemia syndromes. In clinical trials, three classes of therapeutics have demonstrated proof-of-principle of this approach by raising total hemoglobin levels by 1–4 g/dL above baseline in thalassemia patients: EPO preparations, short chain fatty acid derivatives (SCFADs), and chemotherapeutic agents. Although thalassemic erythrocytes survive only for a few days, the magnitude of these responses is similar to those induced by rhu-EPO in anemic conditions of normal erythrocyte survival. New oral therapeutic candidates, which stimulate both fetal globin gene expression and erythropoiesis, and combinations of therapeutics with complementary molecular actions now make this gene-reactivation approach feasible to produce transfusion independence in many patients. Development of the candidate therapeutics is hindered largely by costs of drug development for an orphan patient population.

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Ali, Zena Hussain. "Prevalence and risk factors for hepatitis C virus in Beta thalassemic patients attending blood diseases center in Ibn- AL -Baladi Hospital, Baghdad". AL-Kindy College Medical Journal 14, nr 1 (25.10.2018): 42–49. http://dx.doi.org/10.47723/kcmj.v14i1.17.

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Background: Thalassemias are a group of heterogeneous genetic disorders, in which the rate of production of hemoglobin is partially or completely suppressed due to reduced rate of synthesis of α or β- chain Objectives: to estimate the prevalence of Hepatitis C infection among B thalassemia patients attending Ibn-AL-Baladi center of blood diseases in AL-Sader city, in AL-Resafa Quarter of Baghdad and to determine the possible risk factors. Type of the study: Cross- sectional study. Methods: A cross sectional study conducted on B Thalassemia patients attending the blood diseases center in Ibn-AL-Baladi hospital during the period from 1st of July till the 31st of December 2015. Results: All of 400 eligible patients, who were recruited to be included in this study, were accepted to participate in the study giving an overall response rate 100%. The prevalence rate of Hepatitis C according to anti HCV antibody test among the study group was 26%. Conclusions: we conclude that about quarter of Iraqi thalassemic patients visiting the thalassemia center in Ibn-AL-Baladi hospital have HCV infection

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Mutar, Mohammed Tareq, Mustafa Majid, Ammar Jaleel, Ali Saad, Ali Abdulmortafea i Hashim Talib. "Awareness among Parents of Beta Thalassemia Major and Intermedia Patients in Three Centers in Baghdad and Al-Nasiriyah, Iraq in 2017". International Journal of Medical Students 7, nr 1 (30.04.2019): 6–10. http://dx.doi.org/10.5195/ijms.2019.315.

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Background: Thalassemia is an autosomal recessive disease common in Iraq with a prevalence of 35.7 per 100000. Beta thalassemia major is a life-threatening condition with many complications which if not managed could cause death at an early age. This cross-sectional study aimed to assess the awareness of parents/caregivers of children with beta-thalassemia major and intermedia, as enhancing awareness is the first and the most important step in all prevention programs Methods: We conducted this study in three thalassemia centers (two in Baghdad and one in Al-Nasiriyah) from July 20th, 2017 to September 20th, 2017. This study involved 193 parents of thalassemic children under the age of 15 who come to the centers frequently for blood transfusion. The study assessed the awareness questionnaire through interviews. Data analysis was performed using the Statistical Package for the Social Sciences program (SPSS) version 24. Results: We found that awareness was low in many aspects. The highest knowledge was for foods that thalassemic patients shouldn't eat and for the early manifestation signs in thalassemic patients which is 94.8% and 86%, respectively. The lowest knowledge was for the consideration of human immune deficiency virus as a transfusion-transmitted disease and for the chance of having an affected child when both parents are carriers which were 37.3% and 11.9%, respectively. Conclusion: Parents have low awareness of thalassemia in many aspects. Thalassemia care centers may need to provide more education for the parents of patients with thalassemia.

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Kuypers, Frans A., Jie Yuan, Rachel A. Lewis, L. Michael Snyder, Charles R. Kiefer, Ahnond Bunyaratvej, Suthat Fucharoen i in. "Membrane Phospholipid Asymmetry in Human Thalassemia". Blood 91, nr 8 (15.04.1998): 3044–51. http://dx.doi.org/10.1182/blood.v91.8.3044.3044_3044_3051.

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Phospholipid asymmetry in the red blood cell (RBC) lipid bilayer is well maintained during the life of the cell, with phosphatidylserine (PS) virtually exclusively located in the inner monolayer. Loss of phospholipid asymmetry, and consequently exposure of PS, is thought to play an important role in red cell pathology. The anemia in the human thalassemias is caused by a combination of ineffective erythropoiesis (intramedullary hemolysis) and a decreased survival of adult RBCs in the peripheral blood. This premature destruction of the thalassemic RBC could in part be due to a loss of phospholipid asymmetry, because cells that expose PS are recognized and removed by macrophages. In addition, PS exposure can play a role in the hypercoagulable state reported to exist in severe β-thalassemia intermedia. We describe PS exposure in RBCs of 56 comparably anemic patients with different genetic backgrounds of the α- or β-thalassemia phenotype. The use of fluorescently labeled annexin V allowed us to determine loss of phospholipid asymmetry in individual cells. Our data indicate that in a number of thalassemic patients, subpopulations of red cells circulate that expose PS on their outer surface. The number of such cells can vary dramatically from patient to patient, from as low as that found in normal controls (less than 0.2%) up to 20%. Analysis by fluorescent microscopy of β-thalassemic RBCs indicates that PS on the outer leaflet is distributed either over the entire membrane or localized in areas possibly related to regions rich in membrane-bound α-globin chains. We hypothesize that these membrane sites in which iron carrying globin chains accumulate and cause oxidative damage, could be important in the loss of membrane lipid organization. In conclusion, we report the presence of PS-exposing subpopulations of thalassemic RBC that are most likely physiologically important, because they could provide a surface for enhancing hemostasis as recently reported, and because such exposure may mediate the rapid removal of these RBCs from the circulation, thereby contributing to the anemia.

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De Franceschi, Lucia, Mariarita Bertoldi, Alessandro Matte, Sara Santos Franco, Antonella Pantaleo, Emanuela Ferru i Franco Turrini. "Oxidative Stress andβ-Thalassemic Erythroid Cells behind the Molecular Defect". Oxidative Medicine and Cellular Longevity 2013 (2013): 1–10. http://dx.doi.org/10.1155/2013/985210.

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β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by the absence or reducedβ-globin chain synthesis. Despite the extensive knowledge of the molecular defects causingβ-thalassemia, less is known about the mechanisms responsible for the associated ineffective erythropoiesis and reduced red cell survival, which sustain anemia ofβ-thalassemia. The unbalance of alpha-gamma chain and the presence of pathological free iron promote a severe red cell membrane oxidative stress, which results in abnormalβ-thalassemic red cell features. These cells are precociously removed by the macrophage system through two mechanisms: the removal of phosphatidylserine positive cells and through the natural occurring antibody produced against the abnormally clustered membrane protein band 3. In the present review we will discuss the changes inβ-thalassemic red cell homeostasis related to the oxidative stress and its connection with production of microparticles and with malaria infection. The reactive oxygen species (ROS) are also involved in ineffective erythropoiesis ofβ-thalassemia through still partially known pathways. Novel cytoprotective systems such as ASHP, eIF2α, and peroxiredoxin-2 have been suggested to be important against ROS inβ-thalassemic erythropoiesis. Finally, we will discuss the results of the majorin vitroandin vivostudies with antioxidants inβ-thalassemia.

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Solhi, Hasan, Mojgan Hashemieh, Mohammad Lorgard Dezfuli Nejad, Hamid Reza Khoddami Vishteh i Maryam Rahmati Nejad. "Diagnostic value of fingerprint patterns: An explorative study on beta-thalassemia diagnosis". Bangladesh Medical Research Council Bulletin 36, nr 1 (17.07.2010): 27–31. http://dx.doi.org/10.3329/bmrcb.v36i1.4631.

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Rapid diagnosis of major ? thalassemia along with certain preventive measures is of utmost significance. The present study aims to compare the fingerprints in Major ? thalassemic patients (67) and in their parents (76 with minor thalassemia) with the normal fingerprints of control group (144). A forensic medical examiner determined fingerprint types of arch, loop, whorl and other types. Like normal individuals, loop fingerprint pattern was found to be the most common fingerprint type among thalassemic patients. However, the number of whorl fingerprints in all fingers in thalassemic patients was greater than that of normal individuals and the number of loop fingerprints was smaller (p<0.05). Arch type fingerprint pattern was less frequent in major thalassemic patients compared to minor thalassemic ones (p<0.05). The findings show that the number of whorl fingerprint patterns in thalassemic patients was greater than that of normal individuals, while the number of loop fingerprint patterns being smaller and the frequency of arch fingerprint pattern in patients with major thalassemia was lower than that of minor thalassemic patients. Therefore, one may choose fingerprint pattern as a simple, affordable and appropriate screening method to help detect the afflicted patients and prevent severe cases of thalassemia. Online: 18 July 2010 DOI: http://dx.doi.org/10.3329/bmrcb.v36i1.4631 Bangladesh Med Res Counc Bull 2010; 36: 27-31

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Vives-Corrons, JL, MA Pujades, A. Miguel-Garcia, A. Miguel-Sosa i S. Cambiazzo. "Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction". Blood 80, nr 6 (15.09.1992): 1582–85. http://dx.doi.org/10.1182/blood.v80.6.1582.1582.

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Abstract delta beta-Thalassemia and hereditary persistence of fetal hemoglobin (HPFH) are inherited disorders characterized by the persistent synthesis of fetal hemoglobin (HbF) during adult life. The Spanish type of delta beta-thalassemia is a mild thalassemic condition due to a large deletion starting at the Alu I repeat between the A gamma and delta-globin genes immediately 3′ to the RIH probe and extending 11 and 17 kb downstream of the 3′ endpoints of HPFH 1 and HPFH 2, respectively. Using probes from the Spanish (delta beta)zero- thalassemic DNA, the 3′ breakpoint region has been mapped to a point approximately 8.5 to 9.0 kb downstream from that of HPFH type 1 and, as we know the restriction sites 3′ to this breakpoint, the presence of the deletion can be identified with the polymerase chain reaction (PCR). In the present study, a PCR method using three specific oligonucleotides has been developed for the identification of the Spanish (delta beta)zero-thalassemia in 100 patients with delta beta- thalassemia (99 heterozygotes with mild anemia, decreased mean corpuscular volume, and 5% to 15% HbF, and one homozygote with 100% HbF and thalassemia intermedia phenotype). We conclude that the finding of the Spanish type of (delta beta)zero-thalassemia in all the patients studied here suggests Spain as the most probable origin of this thalassemic phenotype. Moreover, the amplification of the fragment encompassing the deletion junction and normal sequence is useful for the rapid molecular detection of Spanish (delta beta)zero-thalassemia.

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Vives-Corrons, JL, MA Pujades, A. Miguel-Garcia, A. Miguel-Sosa i S. Cambiazzo. "Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction". Blood 80, nr 6 (15.09.1992): 1582–85. http://dx.doi.org/10.1182/blood.v80.6.1582.bloodjournal8061582.

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delta beta-Thalassemia and hereditary persistence of fetal hemoglobin (HPFH) are inherited disorders characterized by the persistent synthesis of fetal hemoglobin (HbF) during adult life. The Spanish type of delta beta-thalassemia is a mild thalassemic condition due to a large deletion starting at the Alu I repeat between the A gamma and delta-globin genes immediately 3′ to the RIH probe and extending 11 and 17 kb downstream of the 3′ endpoints of HPFH 1 and HPFH 2, respectively. Using probes from the Spanish (delta beta)zero- thalassemic DNA, the 3′ breakpoint region has been mapped to a point approximately 8.5 to 9.0 kb downstream from that of HPFH type 1 and, as we know the restriction sites 3′ to this breakpoint, the presence of the deletion can be identified with the polymerase chain reaction (PCR). In the present study, a PCR method using three specific oligonucleotides has been developed for the identification of the Spanish (delta beta)zero-thalassemia in 100 patients with delta beta- thalassemia (99 heterozygotes with mild anemia, decreased mean corpuscular volume, and 5% to 15% HbF, and one homozygote with 100% HbF and thalassemia intermedia phenotype). We conclude that the finding of the Spanish type of (delta beta)zero-thalassemia in all the patients studied here suggests Spain as the most probable origin of this thalassemic phenotype. Moreover, the amplification of the fragment encompassing the deletion junction and normal sequence is useful for the rapid molecular detection of Spanish (delta beta)zero-thalassemia.

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Wahidiyat, Iskandar, A. H. Markum, M. Abdulsalam i S. Muslichan. "Some Problems of Thalassemia in Jakarta". Paediatrica Indonesiana 18, nr 3-4 (13.06.2017): 100. http://dx.doi.org/10.14238/pi18.3-4.1978.100-8.

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Within 10 years (1964 - 1974) two hundred and twenty one thalassemic children were observed in the Department of Child Health, Medical School, University of Indonesia in Jakarta. They consisted of 119 cases of thalassemia major, 95 thalassemia Hb E disease, 6 Hb H disease and 1 thalassemia Hb S disease. The main treatment of thalassemia major is still blood transfusion. Splenectomy was performed on 29 children with thalassemia major and 26 cases with thalassemia Hb E disease. Splenectomy performed on cases before hypersplenism appeared, showed better results then those late cases who have already symptoms of hypersplenism. Beside the medical points of view thalassemia has also many social aspects to be considered, those of the child itself, the parents and the society or community.

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Nuinoon, Manit, Kwanta Kruachan, Warachaya Sengking, Dararat Horpet i Ubol Sungyuan. "Thalassemia and Hemoglobin E in Southern Thai Blood Donors". Advances in Hematology 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/932306.

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Thalassemia and hemoglobin E (Hb E) are common in Thailand. Individuals with thalassemia trait usually have a normal hemoglobin concentration or mild anemia. Therefore, thalassemic individuals who have minimum acceptable Hb level may be accepted as blood donors. This study was aimed at determining the frequency ofα-thalassemia 1 trait,β-thalassemia trait, and Hb E-related syndromes in Southern Thai blood donors. One hundred and sixteen voluntary blood donors, Southern Thailand origin, were recruited for thalassemia and Hb E screening by red blood cell indices/dichlorophenolindophenol precipitation test.β-Thalassemia and Hb E were then identified by high performance liquid chromatography and 4 commonα-thalassemia deletions were characterized by a single tube-multiplex gap-polymerase chain reaction. Overall frequency of hemoglobinopathies was 12.9%, classified as follows: homozygousα-thalassemia 2 (1.7%), heterozygousα-thalassemia 1 (1.7%), heterozygousβ-thalassemia withoutα-thalassemia (0.9%), heterozygous Hb E withoutα-thalassemia (5.2%), double heterozygotes for Hb E/α-thalassemia 1 (1.7%), homozygous Hb E withoutα-thalassemia (0.9%), and homozygous Hb E with heterozygousα-thalassemia 2 (0.9%). The usefulness of thalassemia screening is not only for receiving highly effective red blood cells in the recipients but also for encouraging the control and prevention program of thalassemia in blood donors.

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Sachdeva, Anupam, Satya Yadav, Satinder Kaur Gujral, Ashum Gupta i Varinder Kumar Khanna. "Anxiety, Self-Esteem and Social Functioning in Adolescents with Thalassemia Major." Blood 106, nr 11 (16.11.2005): 3843. http://dx.doi.org/10.1182/blood.v106.11.3843.3843.

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Abstract Whereas it has been established that it is important to provide a therapeutic strategy in Thalassemia major that includes not only medical but also psychological and social interventions from childhood to adulthood, the modalities and instruments of intervention and methods of evaluation and verification still have to be defined. In the present study an attempt has been made to obtain compare thalassemic adolescents to that of healthy adolescents in the areas of psychological factors - anxiety, self-esteem and social functioning. In this study we prospectively studies 40 adolescents (age 13–19 years) of which 20 had thalassemia major and 20 were normal healthy adolescents. In order to compare the two groups on anxiety and self-esteem the t-test was used. A semi-structured interview was used to assess psychological factors. In order to find significant difference between two groups on this semi-structured interview, chi square test was used. The measure of anxiety in the present study is that of trait anxiety stable personality measure which is resistant to situational fluctuation. There was no difference found between two groups in the present study on standardized measure of trait anxiety (t-value 0.96). Most theoretical formulations have stressed that thalassemia can have effect on self-image. Specially, body changes and disruption of activities are seen as lowering the patient self worth however, no significant difference was found between two groups in present study on standardized measure of self-esteem. (T-value 0.70) In the social functioning the chi square test found a significant difference in the extent to which the two groups liked the school (p value <0.05) as 35% of thalassemics like the school a lot against only 10% of healthy. In leisure activity thalassemic adolescents were more sedentary type (p value <0.25). In daily functioning no significant difference was noted among two groups. In illness issues the only question which revealed significant difference were that “ are you able to run as much as others”(P value < 0.01) Thalassemic adolescents responded to be less able to run and falling more often ill than the healthy adolescents. In regards to future 50% thalassemics responded to be cured in future whereas 45% of healthy adolescents had responded to having friends as the future hope. In the views on employment prospects significant difference was found (p value <0.01) where 30 % of thalassemics were pessimistic and rest 70% optimistic whereas 100% of healthy adolescents were optimistic. In the field of marriage and parenthood majority of adolescents in each group anticipated marriage and parenthood. No significant difference was noted. In conclusion this study shows that, in general, the self-concepts of thalassemics were normal.

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Eiden, Mary Kate, Abhinab Kc, Michael Evans i Alexander A. Boucher. "Analysis of New Pediatric Thalassemia Diagnoses between 2010-2019 in a University System and Comparisons with Statewide Demography of Minnesota". Blood 136, Supplement 1 (5.11.2020): 25–26. http://dx.doi.org/10.1182/blood-2020-137597.

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Introduction Thalassemias are common inherited hematologic disorders worldwide, and with increasing migration, its prevalence evolves in different countries. However, community prevalence across most of the United States is unknown. Minnesota, particularly Minneapolis/St. Paul, has a relatively large community of immigrant families, with focal ethnic clusters of Karen and Hmong individuals from Southeast Asia, Liberia, and neighboring countries in Western Sub-Saharan Africa. Statewide data show that these ethnic minority populations have grown in the past decade; it is unknown whether thalassemia prevalence mirrors these migration trends. This report aims to quantify the demography and disease characteristics of children with thalassemia mutations seen at University of Minnesota/M Health Fairview (MHF) diagnosed between January 1, 2010 and December 31, 2019. Methods An institutional review board-approved electronic medical record (EMR) review was undertaken. Patients born on or after January 1, 2001 were included if they received medical care within the MHF system and thalassemia status could be confirmed. The prevalence by thalassemia type, demography, language, treatment details, and specialist involvement were detailed. A patient's ethnicity determination was defaulted to "American" if the ethnicity and/or immigration country of origin going back at least two generations could not be confirmed via EMR. The trends of new diagnoses over the decade were reviewed and compared to available state demography data trends. Descriptive statistical analyses were performed for the full group and by thalassemia type. Results A total of 404 patients met inclusion criteria, representing 48 country or region-specific ethnicities, 17 known countries of birth, and 30 separate languages. The most prevalent immigrant ethnicities were Karen (15%), Hmong (10%), and Vietnamese (5%), representing the 14th, 2nd, and 6th-largest immigrant communities in the state, respectively (www.mncompass.org). In Minnesota, the Asian population grew by 32% (69,800 people) between 2010-2018 (Minnesota State Demographic Center, https://mn.gov/admin/demography/data-by-topic/age-race-ethnicity/). The overall number of thalassemia diagnoses also increased over the decade, with Karen patients representing the largest proportional increase over the available time frame (Figure 1). Including both trait and disease, alpha thalassemias were more frequently diagnosed than beta thalassemias (63% versus 37%). Of the alpha thalassemias, 79% were suspected or confirmed 1-2 gene deletions based on newborn screening. Eleven (2.7%) had hemoglobin (Hb) H disease and 2 (0.5%) had alpha thalassemia major. Beta thalassemia intermedia, beta thalassemia major, and HbE were collectively 5.4% of all patients, 59% of whom were transfusion-dependent. Genetic confirmation was performed for 10.4% of all thalassemias. Those with alpha thalassemias were more ethnically diverse. Aside from those categorized as "American", those with beta thalassemias were more likely to be Karen (25%), while those with alpha thalassemias were most likely to be Hmong (14.4%). Seven had chelation prescribed during the time frame and 5 underwent bone marrow transplant. Only 16% were seen by a hematologist in the MHF system, though the yearly trends of hematology care did not match the increased diagnostic rate (Figure 2). Conclusions The incidence of pediatric thalassemia diagnoses have increased over the past decade at MHF, somewhat reflecting the statewide demographic trends. However, most patients are never being seen by hematology. A caveat to the data described is the fact that MHF is 1 of 2 pediatric hospitals locally, with the other having the historically larger thalassemia patient population. Thus, while these data offer crucial insights into the potential frequency of thalassemia mutations in our state, they also are likely to significantly under-represent the local prevalence. Also, the data do not reflect the prevalence in youths diagnosed prior to 2010 or the adult prevalence, for which institutional investigations are currently ongoing. These data illuminate the need to ensure adequate educational resources and financial support for these primarily non-English-speaking communities to improve awareness for families and medical providers and offset substantial medical costs for life-saving therapies. Disclosures No relevant conflicts of interest to declare.

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Shamaoon, Muhammad, Junaid Nawaz i Muhammad Ahsan. "β-THALASSEMIA MAJOR". Professional Medical Journal 25, nr 06 (10.06.2018): 823–27. http://dx.doi.org/10.29309/tpmj/2018.25.06.265.

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Background: Â-thalassemia is a common single genetic disorder in Pakistanwith about 8% gene frequency and roughly 10 million carriers. Growth impairment leadingto short stature in thalassemic patients is an important cause of morbidity. Objectives: Todetermine the frequency of short stature in children with muti-transfused â-Thalassemia major.Study Design: Descriptive cross sectional study. Place and Duration of Study: PediatricDepartment, Allied Hospital, Faisalabad from December 2015 to May 2016. Patient & Methods:Ninety multi-transfused â-thalassemia major patients diagnosed by hemoglobin electrophoresisbetween 06 to 10 years of age of either gender were included. Patients with â-thalassemiamajor with a concomitant chronic illness like congenital heart disease, tuberculosis, celiacdisease and immunodeficiency and those with familial short stature as determined by historyand mid-parental height were excluded. Results: Out of 90 cases, 56.67% (n=51) werebetween 6-8 years of age while 43.33% (n=39) between 9-10 years of age, mean + SD was7.85+1.50 years, 51.11%(n=46) male and 48.89%(n=44) were females. Frequency of shortstature in children with â-thalassemia major receiving multiple transfusion was 41.11% (n=37)while 58.89% (n=53) had normal stature. Conclusion: The frequency of short stature is highamong â-thalassemic multi-transfused children. It is recommended that every patient withâ-Thalassemia major, should be sort out for short stature. However, surveillance of growth anddevelopment in these patients is important.

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Basu, Subhangi, Motiur Rahaman, Tuphan Kanti Dolai, Praphulla Chandra Shukla i Nishant Chakravorty. "Understanding the Intricacies of Iron Overload Associated with β-Thalassemia: A Comprehensive Review". Thalassemia Reports 13, nr 3 (3.07.2023): 179–94. http://dx.doi.org/10.3390/thalassrep13030017.

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β-thalassemia, a congenital genetic hematological disorder characterized by the decrease or absence of β-globin chains, leads to a decrease in levels of Hemoglobin A. The affected individuals can be categorized into two cohorts based on transfusion dependency: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). Remarkably, despite the primary pathology lying in β-globin chain depletion, β-thalassemia also exhibits an intriguing association with iron overload. Iron metabolism, a tightly regulated physiological process, reveals a complex interplay in these patients. Over time, both cohorts of β-thalassemic individuals develop iron overload, albeit through distinct mechanisms. Addressing the diverse complications that arise due to iron overload in β-thalassemic patients, the utilization of iron chelators has gained a lot of significance. With varying efficacies, routes of administration, and modes of action, different iron chelators offer unique benefits to patients. In the Indian context, three commercialized iron chelators have emerged, showcasing a high adherence rate to iron chelator-based treatment regimens among β-thalassemic individuals. In this review, we explore the intriguing connection between β-thalassemia and iron overload, shedding light on the intricate mechanisms at play. We delve into the intricacies of iron metabolism, unveiling the distinct pathways leading to iron accumulation in these patients. Additionally, the therapeutic efficacy of different iron chelators in managing iron overload complications is mentioned briefly, along with the guidelines for their usage in India. Through this comprehensive analysis, we aim to deepen our understanding of β-thalassemia and iron overload, paving the way for optimized treatment strategies. Ultimately, our findings provide valuable insights into improving the care and outcomes of individuals affected by β-thalassemia.

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Sodani, Pietro, David Gaziev, Paola Polchi, Buket Erer, Claudio Giardini, Emanuele Angelucci, Donatella Baronciani i in. "New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years". Blood 104, nr 4 (15.08.2004): 1201–3. http://dx.doi.org/10.1182/blood-2003-08-2800.

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Abstract When prepared for transplantation with busulfan (BU) 14 mg/kg and cyclophosphamide (CY) 120 to 160 mg/kg, patients with thalassemia in risk class 3, aged younger than 17 years, who receive transplants from HLA-identical donors, had a 30% incidence of transplant rejection with recurrence of thalassemia. This, relatively poor, outcome was ascribed to insufficient immune suppression or to inadequate eradication of the thalassemic marrow, or both. In an attempt to enhance both immune suppression and eradication of the thalassemic clones, hydroxyurea, azathioprine, and fludarabine were added to the BU and CY. This regimen, called protocol 26, was applied to 33 consecutive patients with class 3 thalassemia aged younger than 17 years and was well tolerated with 93% survival. The incidence of recurrent thalassemia after the transplantation decreased from 30% to 8%. (Blood. 2004;104:1201-1203)

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Kavita Attri, Sonia Yadav, Sushma Maratha, Liza Sharma, Kiran Sharma, Navgeet Kaur, Neha Ronald William i Shikha Rathi. "A Review on Current Status of Blood Disorder: Thalassemia and its Treatment". Journal of Advanced Zoology 44, S-5 (24.10.2023): 1289–99. http://dx.doi.org/10.17762/jaz.v44is-5.1211.

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The most prevalent hereditary monogenic disorders that claim millions of lives globally are thalassemic syndromes. A thalassemia is an inherited condition, at least one parent must carry the disease's gene. Perhaps a genetic mutation/ defective globin chain or the loss of specific important gene segments is the main cause. Thalassemic illnesses started to strain the healthcare systems of several nations worldwide. Management of thalassemia is now seen as a lifelong treatment that requires continuous monitoring. In this review, we seek to compile and analyze recent research on thalassemia diagnosis and treatment, including papers, studies, and clinical trials. We also intend to present a concise yet comprehensive study. A thalassemia is an inherited condition, at least one parent must carry the disease's gene. Perhaps a genetic mutation/ defective globin chain or the loss of specific important gene segments is the main cause.

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Kamil Mohammed, Iyden. "Detection of some antioxidant markers in saliva of patients with beta thalassemia major". Al-Kufa University Journal for Biology 11, nr 1 (29.06.2019): 83–93. http://dx.doi.org/10.36320/ajb/v11.i1.8035.

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Background : Although evaluation and maintenance of antioxidant defence can be useful in protecting β-thalassemia patients from more serious complications of the disease, there are limited studies about assessment of antioxidant capacity in beta-thalassemic patients particularly in saliva.Methodology:Thirty patients with β thalassemia major were involved in this study in thalassemia center / Ebn- Albalady hospital in Baghdad, and fifteen normal subjects with matched age and sex were also involved and considered as control group. Age, gender, blood groups, BMI, secretory status, and antioxidant markers were determined in the saliva of normal and diseased subjects, however the status of HCV infection, liver and spleen are evaluated in beta-thalassemic patients.

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Tatli Gunes, Burcak, Meral Turker, Salih Gozmen, Yesim Oymak, Yilmaz Ay, Dilek Ince, Gulcihan Ozek, Tuba Hilkay Karapinar, Berna Atabay i Canan Vergin. "Procoagulant Phospholipid Activity, Whole Blood Thromboelastography and Thrombin Generation Assay to Detect Hypercoagulability in Thalassemic Children". Blood 124, nr 21 (6.12.2014): 4896. http://dx.doi.org/10.1182/blood.v124.21.4896.4896.

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Abstract INTRODUCTION: Life expectancy of thalassemia patients has markedly increased over the last few decades. Nevertheless patients suffer from many complications of this congenital chronic disease.The presence of a highincidence of thrombotic events has led to the identification of a hypercoagulable state in these patients.The thrombotic risk is higher in β-thalassemia intermedia and splenectomized patients. The mechanisms responsible for the increased thrombotic risk are still unclear. Several factors that contribute to the hypercoagulable state in patients with thalassemia have been identified: chronic platelet activation, abnormal red blood cells, microparticles,iron overload, endothelial damage, splenectomy, decreased levels of anticoagulant factors and presence of prothrombotic mutations. We aimed to assess hypercoagulability in children with β-thalassemia. DESIGN AND METHODS: Sixty eight thalassemia major and 42 thalassemia intermedia patients included our study. The control group consisted of 41 age and sex matched healthy children. Demographic data of patients were recorded from their medical records. None of the thalassemic patients have thrombosis before. To evaluate the relative role of microparticles, blood cells and plasma: coagulation tests (prothrombin time, activated prothrombin time, fibrinogen and d-dimer), serum coagulation factor levels (factor II, V, VII, VIII, IX, X, von willebrand factor, protein C, protein S, antithrombin III), procoagulant phospholipid activity and thrombin generation assay were studied from plasma, thromboelastography from whole blood. The main component of microparticles are negative anionic phospholipids.Procoagulant phospholipid activity is a functional analyse to detect microparticles.Thromboelastography measures indices of the viscoelastic properties of whole blood after activation of coagulation and the thrombin generation assay measures the actual thrombin concentrations before and after the clot is formed. RESULTS: The median age is 144 months ( 11-236 months)in thalassemia major and 142 months (72-202 months) in thalassemia intermedia patients. Plasma factor II, factor V, factor IX, factor X and protein C levels were significantly lower in thalassemia major and intermedia patients than control subjects. Plasma phospholipid activity and whole blood thromboelastography parameters were all consistent with hypercoagulability in thalassemic patients, especially in splenectomized patients. Endogenous thrombin potential (area under the curve in thrombin generation assay) was significantly lower in thalassemic patients than control subjects and in non-splenectomized patients than splenectomized patients contrary to expectations. CONCLUSIONS: The hypercoagulability in thalassemic patients especially in splenectomized patients can be determined with procoagulant microparticle activity and whole blood thromboelastography but not with thrombin generation assay in platelet poor plasma. These findings showthat blood cells and/or platelets may be more important determinants of thrombotic risk rather than plasma abnormalities in thalassemic patients. Disclosures No relevant conflicts of interest to declare.

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Cappellini, M. Domenica, Chiara Refaldi, Daniela Bignamini, Laura Zanaboni i Gemino Fiorelli. "Molecular Analysis of Alpha Hemoglobin Stabilizing Protein (AHSP) in Caucasian Patients with different Beta-Thalassemia Phenotypes." Blood 104, nr 11 (16.11.2004): 3770. http://dx.doi.org/10.1182/blood.v104.11.3770.3770.

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Abstract Beta-thalassemia is a inherited hemoglobin disorder characterized by absent or reduced synthesis of the b globin chains. The pathophysiology and the severity of b-thalassemias reflect the degree of globin chain imbalance and the excess of free a globin chains that precipitate and cause oxidative damage in red cell precursors inducing their premature destruction in the bone marrow (ineffective erythropoiesis). Although the phenotype of b thalassemias can be modified by inherited factors such as different number of a globin genes or increased fetal hemoglobin production, other mechanisms appear to be involved. Recently, a protein, named alpha hemoglobin stabilizing protein (AHSP), that acts as a molecular chaperone specifically for free a globin chains, preventing their precipitation in red cell precursors, has been identified. To establish whether AHSP might have a role in modifying the clinical outcome of b thalassemias, we have analyzed the AHSP gene in 70 Caucasian b thalassaemic subjects: 26 patients with b°/b° genotype (Thalassaemia Major),24 patients with Thalassemia Intermedia (b°/b+ or b+/b+) and 20 patients with a Thalassaemia Intermedia phenotype but with only one mutation in the b globin gene, a normal a globin genotype and no other causes of anemia. In all the subjects, we have performed Denaturing High-Performance Liquid Chromatography (DHPLC) of the three exons and the direct genomic sequencing of coding and noncoding regions (~ 1.5 kb) of AHSP gene. No mutations able to modify the structure or function of AHSP have been found, however we identified eight single nucleotide polymorphisms (SNPs) spanned along the whole gene that segregate in four different aplotypes. To evaluate a possible relationship between a particular aplotype and b thalassemia severity, the allele frequency of each single aplotype in the tree groups has been established and compared to that of 33 Caucasian normal controls: no statistically significant association has been proved. Even though the loss of AHSP aggravates the b thalassaemia phenotype in mice, in Thalassemic Caucasian population the AHSP apparently doesn’t make changes in the clinical severity of b thalassemia confirming the results recently found in Thai population.

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Al-Hamzawi, Ali, i Sami Kh. Suhaim. "Psychoneurotic Profiles Of Thalassemia." AL-QADISIYAH MEDICAL JOURNAL 5, nr 8 (12.08.2017): 23–38. http://dx.doi.org/10.28922/qmj.2009.5.8.23-38.

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Background:Thalassemia is chronic disabling disease which have both physical and psychological consequences. Thalassemic patients are receiving medical care that is the focus of major attention with lesser focus on the psychiatric aspect of the illness. Early diagnosis and appropriate management of psychiatric disorders among thalassemic patients may improve the outcome , prognosis and overall quality of patients life.Objectives :To determine psychoneurotic profiles in thalassemic patients and to find out rates of anxiety, phobia, obsession, somatization, depression &hysteria. Method:The sample of the study was consisted of case group and control group. Each of the two groups include 80 thalassemic patients and 80 normal people respectively. The self-rating inventory Crown Crisp Experiential Index( CCEI) has been used to study their psychoneurotic profiles.Results :The study revealed that the frequency of psychiatric morbidity was significantly high among thalassemic patients.The rate of psychiatric symptoms was 87.5% vs.21.25% among thalassemic free people.The rate of somatization(92.5%), phobia(88.8%), anxiety(85%), obsession(83.8), hysteria(81.3%) and depression(76.3).The most common psychiatric symptom was dizziness and shortness of breath and the least common one was feeling loss of sympathy with others.Conclusions :The psychiatric morbidity of thalassemic patients is remarkable and suggest that all patients with thalassemia should undergo psychiatric assessment and Psychosocial aspects need to be addressed in the overall treatment of children with thalassemia.

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Dama, Laxmikant Basavraj, i Swarupa B. Dama. "Growth of children with thalassemia". Bangladesh Journal of Medical Science 14, nr 1 (19.11.2014): 22–25. http://dx.doi.org/10.3329/bjms.v14i1.16149.

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Background: Present observational study, to surveying the growth of children with thalassemia from Solapur District, Maharashtra State, India. Aims: The purpose of this article is to determine the growth of thalassemia in children by analyzing age and gender. One hundred twenty five thalassemic childrens with age 6 months to 18 Years, coming for to get blood transfusion from different parts of Solapur district during June 1st , 2009 to May 1st, 2013. The questionnaires included general information, medical and dental history. Results: This clinical research studied 125 patients, 73 males and 52 females. The growth of thalassemic children was observed and compared with Indian Standard Height Chart. Normal growth was: male (13.61%), female (19.23%) avarage (16.00%); growth retardation was: male (86.30%), female (80%) averages (84.00%) were observed. Conclusions: Thalassemia major is a serious medical problem. Growth retardation is commonly seen in poly-transfused beta thalassemia patients. DOI: http://dx.doi.org/10.3329/bjms.v14i1.16149 Bangladesh Journal of Medical Science Vol.14(1) 2015 p.22-25

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