Journal articles on the topic 'Hemoglobinopathy Diagnosis'
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Makrydimas, G., G. Damiani, C. Jakil, V. Cigna, M. Orlandi, F. Picciotto, G. Schillaci, et al. "Celocentesis for early prenatal diagnosis of hemoglobinopathy." Ultrasound in Obstetrics & Gynecology 56, no. 5 (October 13, 2020): 672–77. http://dx.doi.org/10.1002/uog.22059.
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Surjawan, Yenny, Hwee Lian Tan, Rahajuningsih Dharma Setiabudy, and Wiwik Rositawati. "Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices." Indonesian Biomedical Journal 9, no. 2 (August 1, 2017): 99. http://dx.doi.org/10.18585/inabj.v9i2.313.
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BACKGROUND: The mutation spectrums of hemoglobinopathy are different among populations that yield a different result of erythrocyte indices. Calculation of erythrocyte indices with some formula has been reported to differentiate between hemoglobinopathy and non-hemoglobinopathy, but its cut-off should be recalculated specific for each population to gain a better sensitivity and specificity. We aimed to evaluate red blood cell count (RBC), Mentzer index, red cell distribution width (RDW), RDW index (RDWI), Shine and Lal index (S&L) and Green and King index (G&K) to screen hemoglobinopathy in Indonesia.METHODS: A retrospective cross-sectional study was performed on 202 subjects. The diagnosis of hemoglobinopathy was determined based on the results of complete blood count (CBC) data, high-performance liquid chromatography (HPLC) and Hemoglobin H (HbH) inclusion body. The ferritin concentration was checked to determine the status of iron. The erythrocytes indices were analyzed and calculated to predict hemoglobinopathy. RESULTS: A total 202 subjects who met the criteria were involved in this study. Fifty percent showed pure hemoglobinopathy and 4% showed a combination of thalassemia and hemoglobinopathy. The hemoglobin concentration and RBC were significantly higher, and the mean corpuscular volume (MCV) and RDW were significantly lower in hemoglobinopathy compared to iron deficiency. The difference was not significant if the hemoglobinopathy was combined with iron deficiency. By this study's cut-off, the G&K and RDWI showed the highest accuracy, sensitivity, and specificity.CONCLUSION: The new cut-off of erythrocyte index and its calculation to screen hemoglobinopathy in Indonesia showed a higher sensitivity and specificity, especially for G&K and RDWI with cut-off 73 and 228, respectively. The presence of iron deficiency in hemoglobinopathy could decrease the sensitivity.KEYWORDS: hemoglobinopathy, RBC, Mentzer index, RDW, RDWI, S&L, G&K
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Hoyer, MD, James D. "Book Review: Hemoglobinopathy Diagnosis by Barbara J. Bain." Laboratory Medicine 32, no. 12 (December 1, 2001): 770. http://dx.doi.org/10.1309/leg8-84vu-xxy8-xtfu.
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Ghosh, Kanjaksha, Kinjalka Ghosh, Reepa Agrawal, and Anita H. Nadkarni. "Recent advances in screening and diagnosis of hemoglobinopathy." Expert Review of Hematology 13, no. 1 (December 22, 2019): 13–21. http://dx.doi.org/10.1080/17474086.2019.1656525.
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Nwabuko, Ogbonna Collins, Dorathy Adaunwa Okoh, and Martin Anazodo Nnoli. "Hemoglobinopathy- The Old and New Eras in a South-Eastern Nigerian Tertiary Health Center." Blood 126, no. 23 (December 3, 2015): 4577. http://dx.doi.org/10.1182/blood.v126.23.4577.4577.
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Abstract BACKGROUND : Hemoglobinopathy is the commonest genetic defect worldwide and sub-Saharan Africa bears the second largest burden of this disorder. The challenges confronting management of hemoglobinopathy in resource-limited settings in Africa are diagnosis, monitoring and prognostication. The old conventional hemoglobin protein electrophoresis test (HbPE) lacks the capacity to make definitive diagnosis of hemoglobin variants (genotype) of an individual, hence, so many diagnosis of hemoglobinopathy have been missed as a result of this defect. This necessitated the need for more reliable technique for screening, diagnosis, monitoring and evaluation of Hemoglobinopathy (High Performance Liquid Chromatography,(HPLC)). AIMS : This study aimed to compare the old conventional HbPE and the new chromatographic methods (HPLC) of determining variant Hemoglobin in a south-eastern tertiary health institution in Nigeria. METHODOLOGY : A one-year prospective study of Eight thousand four hundred and seventy eight (8,478) consecutive patients who presented at the Department of Hematology, Federal Medical Centre, Umuahia for HbPE from January to December 2013 (old era) and seventy (70) patients among them who used HPLC to determine their variant hemoglobin (new era). Biomedical data, electrophoretic and chromatographic patterns of their variant hemoglobin were obtained using the conventional alkaline cellulose acetate HbPE machine and the D-10TM HPLC [Bio-Rad Laboratories] respectively. Statistical analysis was done using SPSS. RESULT: A total of 8,478 patients made up of 1,505(17.8%) males and 5,013(59.1%) females were seen within the study period. The study included both children ( ≥7months) and adult with majority of them (25%) between age of 20-30 years. Three hemoglobin variants were identified viz: [(AA(6447/76%),AS(1876/22.12%),SS(159/1.88%)] using alkaline cellulose acetate HbPE machine in the old era. In the new era, four Hb variants [AA,AS,SS(5.7%) and SD(1.3%)] were obtained using the HPLC. There was a linear increment in quantitative HbF [(AA(31/37),AS(13/20),SS(0/5) had HbF <1%,while AA(0/37),AS(0/20),SS(2/5) had HbF>10%,(Table 1)] and HbA2 [(AA(45/45),AS(8/20),SS(0/5) and AA(0/45),AS(3/20),SS(2/5) had HbA2<3.5% and >10% respectively,(Table 2)] as you move from AA, AS ,to SS Hb variants. The S-window for all HbSS (4/5) was >70% while that of AS and SD ranged between 40-70%. CONCLUSION : A critical comparison of the old and new methods of diagnosis of hemoglobinopathy showed that the later (HPLC) was superior to the former (HbPE) in the early detection, diagnosis, quantification, monitoring and prognostication of Hemoglobinopathy. Therefore, HPLC is strongly recommended in the policy guidelines for Hemoglobinopathy screening in health institutions in developing countries such as Nigeria where the prevalence is high. KEYWORDS : Diagnosis, Hemoglobin variants, HbPE, HPLC, Hemoglobinopathy. Disclosures No relevant conflicts of interest to declare.
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Panou, Vasiliki, Peter-Diedrich Mathias Jensen, Jan Freddy Pedersen, Lars Pilegaard Thomsen, and Ulla Møller Weinreich. "Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease." Pulmonary Medicine 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/701839.
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Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances. Our index person was a healthy woman of 58, not previously diagnosed with hemoglobinopathy Aalborg, who developed acute respiratory failure after a routine cholecystectomy. Initially she was suspected of idiopathic interstitial lung disease, yet a series of tests uncovered various abnormal physiological parameters and set the diagnosis of hemoglobinopathy Aalborg. This led us to examine a group of the index person’s relatives known with hemoglobinopathy Aalborg in order to study whether the same physiological abnormalities would be reencountered. They were all subjected to spirometry and body plethysmography, six-minute walking test, pulse oximetry, and arterial blood gas samples before and after the walking test. The entire study population presented the same physiological anomalies: reduction in diffusion capacity, and abnormalities inPaO2and p50 values; the latter could not be presented by the arterial blood gas analyzer; furthermore there was concordance between pulse oximetry and arterial blood gas samples regarding saturation. These data suggest that, based upon the above mentioned anomalies in physiological parameters, the diagnosis of hemoglobinopathy Aalborg should be considered.
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Degandt, Simon, Rémy Coens, Barbara Cauwelier, Helena Devos, Michel Langlois, and Jan Emmerechts. "Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis." Journal of Clinical Laboratory Analysis 32, no. 1 (April 6, 2017): e22224. http://dx.doi.org/10.1002/jcla.22224.
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Punjaji Tambse, Manjusha, Maya Suresh Vasaikar, and Sunil Santaram Chavan. "Hemoglobin Patterns in Sickle Cell Hemoglobinopathies- A Large Prospective Study in North Maharashtra." MVP Journal of Medical Sciences 4, no. 1 (May 23, 2017): 84. http://dx.doi.org/10.18311/mvpjms/0/v0/i0/11831.
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Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82.05%). Conclusion: A very high prevalence of Sickle cell hemoglobinopathy was noted in this study. This is because the study was done in areas where Pawara and Bhill community resides who have a high frequency of HbS gene. Solubility test was found to be cost effective and easy screening test (Sensitivity being70.36%). HPLC found to be Rapid and accurate test for diagnosis of hemoglobinopathy and had helped in diagnosis of some rare heterozygous disorders like SA-HBQ India, SA-Hereditary persistence of foetal haemoglobin, HBD-SA. This is one of the largest and first of its kind prospective study which will help in prevention and cost effective management in targeted population.
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Portell-Rigo, I., S. Guardia-Alés, M. Molina-Arrebola, J. Ruiz-Cara, M. Benayas-Bellido, and C. Avivar-Oyonarte. "T254 Diagnosis of hemoglobinopathy S homozygote in a patient without symptomatology." Clinica Chimica Acta 530 (May 2022): S182—S183. http://dx.doi.org/10.1016/j.cca.2022.04.742.
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Lobel, Jeffrey S., Bruce F. Cameron, Earslean Johnson, Dianne Smith, and Karen Kalinyak. "Value of Screening Umbilical Cord Blood for Hemoglobinopathy." Pediatrics 83, no. 5 (May 1, 1989): 823–26. http://dx.doi.org/10.1542/peds.83.5.823.
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Foremost among the beneficial effects of screening umbilical cord blood is the optimized quality of care that can follow the immediate involvement of an infant with sickle cell disease and his or her family in an appropriate health care system. This is exemplified by the reduction in the case fatality rate of pneumococcal septicemia that has been achieved. Appropriate follow-up of screening also includes transmission of information about the diagnosis of a hemoglobinopathy trait or α-thalassemia to affected families and their physicians, with ready availability of education and counseling.
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McBride, Cameron L., Kim-Binh T. Mai, and Kartik S. Kumar. "Orbital Infarction due to Sickle Cell Disease without Orbital Pain." Case Reports in Ophthalmological Medicine 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/5867850.
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Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity. Diagnosis can be delayed since the presentation has physical and radiographic findings mimicking various infectious and traumatic processes. We describe a patient who presented with sickle cell orbital crisis without pain. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease or of African descent born outside the United States in a region where screening for hemoglobinopathy is not routine, even when the presentation is not classic.
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Kleman, Klara M., Elliott Vichinsky, and Bertram H. Lubin. "Experience With Newborn Screening Using Isoelectric Focusing." Pediatrics 83, no. 5 (May 1, 1989): 852–54. http://dx.doi.org/10.1542/peds.83.5.852.
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Electrophoretic techniques are used for hemoglobinopathy diagnosis. Confirmation of the hemoglobin variants is necessary. Currently, citrate agar electrophoresis is the most available, but high performance liquid chromatography is highly recommended in a reference laboratory. Thin layer isoelectric focusing is an excellent technique that can be easily adapted for large-scale newborn hemoglobinopathy screening. Although the initial instrument cost can be about twice as much as the cost for standard electrophoretic equipment, cost-effectiveness for newborn screening is considerable because repeat analysis for uninterpretable results is not necessary. Resolution of hemoglobins is much better with thin layer isoelectric focusing than for any of the other electrophoretic methods currently available, and thin layer isoelectric focusing is the best method to use to establish a definitive diagnosis using newborn blood samples. Cord blood samples may be contaminated with maternal blood, and evaluation of Hb A2 levels in such samples can serve as the method to detect contamination. Follow-up testing is required regardless of the method of blood collection.
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Powars, Darleen. "Diagnosis at Birth Improves Survival of Children With Sickle Cell Anemia." Pediatrics 83, no. 5 (May 1, 1989): 830–33. http://dx.doi.org/10.1542/peds.83.5.830.
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The increased survival of children who have sickle cell disease is primarily due to state-of-the-art improvements in general pediatric medical care with particular emphasis on the management of the infectious complications that occur. Studies reported from New York City, Los Angeles, New Haven, and Jamaica clearly demonstrate the calendar era change in survival that has occurred during the 1970s and 1980s, and the greatest improvement is found among those children who have sickle cell anemia. The accurate identification of the specific hemoglobinopathy at or near birth provided the foundation for these studies documenting infant and young child mortality. In Africa, Molineaux et al and Fleming et al reported an epidemiologic investigation subsequent to a cord blood diagnosis program initiated in Garke, Nigeria, in 1976. A total of 534 infants were screened for major hemoglobinopathies, and 11 babies with SS and 125 babies with AS were identified. Minimal medical care was available for follow-up of the children. On entry to the school program at 5 years of age, the same population from the same small rural town was restudied. Only one child of 439 was found to have sickle cell anemia but 133 were AS. The inescapable conclusion was that the African babies with SS had died during early childhood, contributing disproportionate numbers to the high infant and childhood mortality in Nigeria. Not until Dr Fleming and the investigators of the British Medical Research Council had performed a cord blood hemoglobinopathy surveillance program was the incidence of sickle cell anemia and its effect on childhood mortality in Nigeria documented.
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HATSUTORI, YUKIO. "Anemia Advancea in diagnosis and treatments. II. Practice of diagnosis and treatments. 4. Hemolytic anemia. 2) Hemoglobinopathy." Nihon Naika Gakkai Zasshi 88, no. 6 (1999): 1010–15. http://dx.doi.org/10.2169/naika.88.1010.
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Osa-Andrews, Bremansu, Nicole Desimone, Ravi Sarode, Sarita Paulino, and Jing Cao. "Screening for hemoglobinopathy with capillary electrophoresis in adult patients." American Journal of Clinical Pathology 156, Supplement_1 (October 1, 2021): S18. http://dx.doi.org/10.1093/ajcp/aqab189.032.
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Abstract Hemoglobinopathy screening is frequently needed in adult patients, including prenatal carrier screen, workup of unexplained anemia, and bone marrow donor and recipient screening. However, the preferred test method for screening of hemoglobinopathy is not well established due to limited guidance from professional societies. American College of Obstetricians and Gynecologists’ Committee on Genetics recommended hemoglobin electrophoresis as the screening method of hemoglobinopathy in pregnancy; nevertheless, electrophoresis employs various methodologies, including acid gel electrophoresis, alkaline gel electrophoresis, and capillary electrophoresis (CE) with alkaline buffer. For other adult patient populations who need hemoglobinopathy screening, no clear guidelines dictate the method of choice. A previous study has shown that CE captures major hemoglobinopathies with comparable performance to high-performance liquid chromatography (HPLC) in pediatric patients but no study has investigated using CE alone in adult patient screening. In this retrospective study, we evaluated the utility of CE as a screening method to rule out clinically significant hemoglobin variants. During eight months, 312 adult patients without previously identified hemoglobin variants had hemoglobinopathy screening performed using a comprehensive testing algorithm. This cascade algorithm screens for hemoglobinopathy using both CE (Capillarys, Sebia, Paris, France) and HPLC (laboratory-developed test) with reflex to more advanced variant identification such as mass spectrometry and genetic analyses. Categories of abnormal findings were reviewed to determine if hemoglobinopathy can be identified by using CE only. The patient population mainly consists of pregnant women and anemic patients with hematologic malignancies with an average age of 42. Out of the 312 screened patients, 47 had abnormal results. The most frequent condition was elevated hemoglobin F (N=25) ranging 2-5% seen in leukemia patients on chemotherapy attributed to bone marrow stress. Eight cases of beta plus thalassemia (featuring hemoglobin A2 >4%) and 3 cases of hemoglobin C trait were identified in patients with little to mild clinical manifestations (red blood cell indices suggesting anemia). Decreased hemoglobin A2 fraction was observed in 7 patients, and potential causes were alpha thalassemia or iron deficiency. Other less common hemoglobinopathies included heterozygote A2 prime (N=3, a benign delta chain variant that migrates separately from hemoglobin A2 on CE) and hemoglobin G-Philadelphia (N=1). All of the abnormal results are identifiable by CE alone, although HPLC and more advanced methods help confirm the diagnosis. Our study shows that CE as the first line of screening method would rule out major hemoglobinopathies in adults. There have been reports that rare but clinically significant hemoglobin variants like hemoglobin Malmo may not be detected by CE, and therefore, certain pre-test probability factors need to be considered when testing for hemoglobinopathies, such as race/ethnicity background, family history, red blood cell indices, and iron deficiency status.
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Podlesh, Scott W., and Dereck K. Boyden. "Diagnosis of acute bone/bone marrow infarction of the mandible in sickle hemoglobinopathy." Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 81, no. 5 (May 1996): 547–49. http://dx.doi.org/10.1016/s1079-2104(96)80044-8.
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Solh, Ziad, Uma H. Athale, Rebecca Barty, MLT, Erin Jamula, Yang Liu, Grace Wang, Korinne Hamilton, and Nancy Heddle. "Transfusion Related Alloimmunization In Children: Epidemiology and Effects Of Chemotherapy (TRACE-EC Study)." Blood 122, no. 21 (November 15, 2013): 1161. http://dx.doi.org/10.1182/blood.v122.21.1161.1161.
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Abstract Introduction Pediatric hematology/oncology patients require numerous transfusions during myelosuppressive chemotherapy which may lead to red cell (RC) alloantibody formation. However, transfusion related alloimmunization in children has not been studied except in the neonatal and hemoglobinopathy populations. Variability of RC alloimmunization rates by cancer diagnosis has not been described and the immunosuppressive effect of chemotherapy on alloimmunization is unknown. One study has shown a reduction in IgM and IgG in pediatric leukemia patients receiving chemotherapy (Martín Ibáñez et al Allergol Immunopathol 2003); hence, one could hypothesize that chemotherapy could suppress the alloimmune response. This study aimed to: 1) report the rate of alloimmunization in children receiving RC transfusions, 2) compare these rates between oncology and non-oncology patients, and 3) compare these rates based on cancer diagnosis and stage. Methods TRACE-EC was a retrospective observational study using a large database containing patient blood utilization information from 3 academic hospitals. Patient inclusion criteria included: age ≥ 4 months and ≤ 17 years old at the time of receiving ³ 1 non-autologous RC transfusion between April 2002 and November 2011. Diagnoses were identified using ICD10 codes. Patients with immune disorders were excluded. Study patient cohort included patients with malignancies and recipients of hematopoietic stem cell transplant (HSCT) to treat a malignancy; control cohort included non-oncology patients who met the inclusion criteria. Patient and blood utilization data were extracted from the database, and chemotherapy data were obtained by retrospective review of patient medical records. Study patients were stratified for analysis based on cancer diagnosis and stage (surrogate for chemotherapy intensity). Cancer stage was categorized as low level (I, II, standard risk) and high level (III, IV, V, high risk). Control patients with hemoglobinopathy were analyzed separately due to their high alloimmunization rate (Aygun et al. Transfusion 2002). Results There were 1253 patients in the study: 944 in control group; 309 in study group. Females made up 49% of control group and 43% of study group. Mean age was 8.6 years (SD 6.4) in control group, and 7.2 years (SD 5.5) in study group. The frequency of alloimmunization and RC utilization by diagnosis in control and study groups is summarized in Table 1. Overall, a statistical difference in the frequency of alloimmunization was not demonstrated between control patients (4.3%) and study patients (5.5%), p=0.40. When hemoglobinopathy patients were removed from the control group, frequency of alloimmunization decreased to 3.8% (p=0.19). Alloimmunization occurred in 5.4% (10/186) and 5.7% (7/123) of patients with a high level and low level cancer stage respectively, p=0.91. HSCT recipients had a higher rate of alloimmunization than non-HSCT but this was not statistically significant (11.4% vs. 4.5% respectively, p=0.07). Alloimmunization occurred in 4.9% of patients with hematologic malignancies and 7.1% of patients with solid tumors (p=0.44). Conclusions This is the first study that has looked at the frequency of alloimmunization in transfused pediatric patients by diagnostic category and cancer stage. The study confirmed high alloimmunization rates in hemoglobinopathy patients. No difference in the frequency of alloimmunization was observed based on cancer diagnosis, stage, or HSCT status. Further studies are needed to assess the effect on alloimmunization of the high RC utilization rate shown in cancer patients and HSCT recipients. Disclosures: Heddle: Health Canada: Research Funding; Canadian Blood Services: Membership on an entity’s Board of Directors or advisory committees, Research Funding; CIHR: Research Funding.
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Claster, Susan, John Wood, Susan Carson, Thomas Hofstra, Anne Nord, Rachna Khanna, and Thomas Coates. "Nutritional Deficiencies in Chronically Transfused Hemoglobinopathy Patients." Blood 110, no. 11 (November 16, 2007): 1735. http://dx.doi.org/10.1182/blood.v110.11.1735.1735.
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Abstract Vitamin and mineral deficiencies have been well described in non-transfused patients with sickle cell disease (SCD). Levels of biomarkers of oxidant damage are increased in both SCD and thalassemia major (TM), and levels of antioxidants have been shown to be lower in both diseases. Hypermetabolism, increased hemolysis and denaturation of unpaired globin chains contribute to oxidative stress in SCD and TM. Chronic transfusions, initially thought to be protective against oxidation by marrow suppression, may have the opposite effect due to the well-known propensity of iron to promote free radical generation. Methods: To test this hypothesis, we measured levels of vitamins A, B1, B6, C, D, E as well as selenium, zinc, copper and carnitine and compared them to liver iron concentrations in chronically transfused SCD and TM patients. All patients were required to fast overnight and to hold their iron chelator for 24 hours prior to blood draws. Samples were processed by routine clinical processing (Quest Nichols Institute, San Juan Capistrano, CA). Results were expressed as the percentage of patients outside the reference range for the referral laboratory. Twenty four patients with TM and 43 patients with SCD were studied. Abnormal Values In Transfused Patients SC (%abn) TM (%abn) A 73.7 52.4 B1 38.5 37.5 B6 34.2 34.8 Folate 28.6 37.5 C 56.7 66.7 D25 74.4 50.0 D1, 25 48.6 39.1 Se 67.5 75.0 Zn 24.3 8.3 Carnitine (Free) 22.2 41.7 Results: The results in the table demonstrate that over half the patients were deficient in A, C, D and selenium. A third of the patients had low levels of B vitamins and folate (despite replacement doses in the latter), as well as carnitine. B12 levels(not shown) were normal. E levels (not shown) were low in only a few patients. Deficiency profiles were remarkably similar between the two diseases: only copper was significantly higher in the SCD patients (34.2% elevated vs 0% in TM). B6 and folate were weakly correlated with hepatic iron concentration (r2 = −0.12, −0.18). B6, folate, D25-OH, and D1,25 OH levels declined with age. These results demonstrate that chronically transfused patients have significant deficiencies in nutrients which are involved in buffering oxidant stress, regardless of their diagnosis. Severity of iron overload was not a strong predictor of these abnormalities; although the precise explanation is not known, chronic anemia may be the unifying factor. The magnitude of B1, B6, C and D deficiencies in some patients was well into the range known to cause serious complications. These combined abnormalities may contribute to the morbidity of chronically transfused patients with SCD and TM.
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Parab, Sushama, Suhas Sakhare, Caesar Sengupta, and Arokiaswamy Velumani. "Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India." Clinica Chimica Acta 442 (March 2015): 33–35. http://dx.doi.org/10.1016/j.cca.2014.12.037.
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Moerdler, Scott, Ellen Fraint, Ellen Silver, Siobhan M. Dolan, Kafui A. Demasio, Michael E. Roth, Deepa Manwani, and Kerry A. Morrone. "Prenatal Hemoglobinopathy Screening Practices: Areas for Improvement." Blood 134, Supplement_1 (November 13, 2019): 2298. http://dx.doi.org/10.1182/blood-2019-126084.
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Background: Sickle cell disease is one of the most common inherited red blood cell disorders, yet many are not aware of their carrier status (Treadwell, J Nat Med Assoc, 2006), which can lead to confusion around pregnancy and newborn diagnosis. Furthermore, data is emerging about the severe and life-threatening risks of sickle cell trait (Kark, NEJM, 1987 and Olaniran, Am J Nephro, 2019). The American College of Obstetricians and Gynecologists' guidelines recommend that pregnant women of African, Mediterranean and Southeast Asian descent be screened for hemoglobinopathies with a complete blood count (CBC) and hemoglobin electrophoresis (ACOG, Opinion #691, 2017). However, adherence to this practice and frequency of improper screening with Sickledex is unknown. Proper screening and counseling can impact families' knowledge and allow them to establish relationships with hematology providers earlier. Objectives: We sought to assess prenatal hemoglobinopathy screening practice patterns and methods of Obstetrics & Gynecology (OBGYN) and Family Medicine (FM) providers in the Tri-State regional area. Methods: A cross-sectional electronic survey was administered to OBGYN and FM practitioners from six tri-state area institutions using publicly available information and contacts at each institution. Questions focused on prenatal hemoglobinopathy screening practices using case scenarios with variations on parental trait status and ethnicities. Chi-square analyses were used to compare the two provider groups on categorical variables. Results: There were 167 total responses; 120 surveys were complete, of which 87 were OBGYN and 33 FM providers. Respondents were mainly faculty (69/120, 58%) and from academic medical centers (n=107). 42% of providers reported that they ask "76-100%" of their patients about a personal history of sickle cell disease or trait. When asked about the proportion of pregnant patients with a positive family history of a hemoglobinopathy, there was a significant difference between OBGYN and FM providers, with 95% of OBGYN providers responding that they screen "76-100%" of those patients as opposed to only 75% of FM providers screening with the same frequency (p=0.0034). When asked about screening practices for patients without a personal/family history of a hemoglobinopathy, OBGYN providers consistently screen more frequently (Figure 1). When analyzed by ethnic background, screening practices were significantly different only between the subspecialty providers who "always" or "often" screened for hemoglobinopathies in mothers of Asian descent (p=0.03). Over 73% of providers report that they "always" screen patients of Mediterranean, Asian, and Middle Eastern descent and 84% always screen patients of Black descent. Over 30% of all respondents said they would use Sickledex for screening in case scenarios for a Black/African American mother, even when it was already known that she is a sickle cell carrier. In cases where the mother's hemoglobinopathy status was unknown, over 80% of providers responded that they would "always" evaluate with a hemoglobin electrophoresis regardless of Black/African American or Mediterranean descent. In terms of referrals to Hematology, in a case where both parents have sickle cell trait 46% of providers would "never" refer that family to Hematology. Conclusion: This pilot survey highlights differences in the methods and likelihood of prenatal hemoglobinopathy screening based on the type of prenatal care provider. Screening differences can lead to variations in prenatal guidance, diagnostic procedures, informed decision-making and knowledge of families referred to pediatric hematology clinics. This is the first study analyzing prenatal screening for hemoglobinopathies in OBGYN and FM. This study demonstrates that not all prenatal providers adhere to existing ACOG recommendations regarding which patients to screen for hemoglobinopathies and suggests an actionable area in which to enhance education for prenatal providers. Specifically, providers need to be educated that the use of Sickledex is an inappropriate laboratory screening test, since it will not detect other hemoglobinopathies. Improving prenatal screening practices by collaborating with hematologists may increase adherence to guidelines and allow for earlier relationship building with hematology. Figure 1 Disclosures Manwani: GBT: Consultancy, Research Funding; Novartis: Consultancy; Pfizer: Consultancy.
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Sheshanna, Nanditha, Gurpreet Sethi, and Sumitha M. Prakash. "Sudden Death in Sickle Cell Disease: An Autopsy Diagnosis." Journal of Medical Sciences 3, no. 4 (2017): 113–15. http://dx.doi.org/10.5005/jp-journals-10045-0069.
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ABSTRACT Sickle cell disease is a common hereditary hemoglobinopathy with high prevalence in the central and northeastern regions of India. A 24-year-old male patient with 3 days’ history of fever was brought dead to the hospital. Morphology showed clogging of blood vessels with sickled red blood cells (RBCs) in all the organs, and an autopsy diagnosis of sickle cell disease was made. As the cause may not be obvious in many cases, most patients remain undiagnosed. It is important to note the circumstances of death, gross finding, and histopathology, with hemoglobin electrophoresis if available, during autopsy to arrive at the diagnosis. This case is presented here to highlight this fact and draw attention to its pathology. How to cite this article Sheshanna N, Sethi G, Raj JA, Prakash SM, Surhonne SP. Sudden Death in Sickle Cell Disease: An Autopsy Diagnosis. J Med Sci 2017;3(4):113-115.
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Plaseska-Karanfilska, Dijana, B. Atanasovska, G. Bozhinovski, L. Chakalova, S. Kocheva, and O. Karanfilski. "Molecular Diagnostics of ß-Thalassemia." Balkan Journal of Medical Genetics 15, Supplement (December 1, 2012): 61–65. http://dx.doi.org/10.2478/v10034-012-0021-z.
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ABSTRACT A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of b-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (RCGEB) “Georgi D. Efremov,” Skopje, Republic of Macedonia. Our overall approach and most of the methods we use for detection of mutations are designed for the specific target population. We discuss new technical improvements that have allowed us to substantially reduce the average time necessary for reaching a conclusive diagnosis.
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Camaschella, C., A. Alfarano, E. Gottardi, M. Travi, P. Primignani, F. Caligaris Cappio, and G. Saglio. "Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood." Blood 75, no. 11 (June 1, 1990): 2102–6. http://dx.doi.org/10.1182/blood.v75.11.2102.2102.
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Abstract Molecular diagnosis of hemoglobin (Hb) Lepore-Boston in the fetus was successfully accomplished using maternal blood as a source for fetal cells in three pregnancies at risk for beta-thalassemia/Hb Lepore disease. Taking advantage of the possibility of amplifying Lepore- specific DNA fragments by polymerase chain reaction and of families in which Hb Lepore was inherited by the paternal side, we demonstrated in two cases and excluded in one case the presence of this hemoglobinopathy in the fetus directly on maternal DNA. The diagnosis was concordant with that obtained by traditional approaches in all three cases. Our results unequivocally show that nucleated fetal cells are present in maternal blood during pregnancy, and demonstrate for the first time that prenatal diagnosis of a genetic disease may be feasible without invasive procedures.
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Camaschella, C., A. Alfarano, E. Gottardi, M. Travi, P. Primignani, F. Caligaris Cappio, and G. Saglio. "Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood." Blood 75, no. 11 (June 1, 1990): 2102–6. http://dx.doi.org/10.1182/blood.v75.11.2102.bloodjournal75112102.
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Molecular diagnosis of hemoglobin (Hb) Lepore-Boston in the fetus was successfully accomplished using maternal blood as a source for fetal cells in three pregnancies at risk for beta-thalassemia/Hb Lepore disease. Taking advantage of the possibility of amplifying Lepore- specific DNA fragments by polymerase chain reaction and of families in which Hb Lepore was inherited by the paternal side, we demonstrated in two cases and excluded in one case the presence of this hemoglobinopathy in the fetus directly on maternal DNA. The diagnosis was concordant with that obtained by traditional approaches in all three cases. Our results unequivocally show that nucleated fetal cells are present in maternal blood during pregnancy, and demonstrate for the first time that prenatal diagnosis of a genetic disease may be feasible without invasive procedures.
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Alsaeed, Abbas H. "Prevalence of Hemoglobinopathy Disorders in Adult Patients Sent for Diagnosis of Anemia in Saudi Arabia." Genetic Testing and Molecular Biomarkers 16, no. 1 (January 2012): 25–29. http://dx.doi.org/10.1089/gtmb.2011.0087.
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Singh, Anu, Vijay Kumar, Meetu Singh, Priya Sahu, Garima Baweja, and Sadhna Marwah. "A Rare Case Presentation of HbE/ β Thalassemia." Annals of Pathology and Laboratory Medicine 7, no. 10 (October 29, 2020): C128–132. http://dx.doi.org/10.21276/apalm.2794.
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HbE/β thalassemia (HbE/β thal) genotype accounts for approximately one half of severe β thalassemia cases worldwide. The disorder shows marked clinical variability ranging from mild asymptomatic anemia to life threatening disease. Here, we report a case of a 2-year-old boy from Bihar presenting with severe haemolytic jaundice. Complete haematological profile and Haemoglobin High Performance Liquid Chromatography (Hb HPLC) using Biorad version was done of the patient along with the family was done to arrive at the diagnosis of this rare hemoglobinopathy.
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Hosseeini, Soudabeh, Ebrahim Kalantari, Akbar Dorgalaleh, Taregh Bamedi, Massomeh Farzi, and Dorgalele Saeed. "Thalassemia and Hemoglobinopathy Screening By HPLC Method and Comparison With Conventional Methods." Blood 122, no. 21 (November 15, 2013): 4709. http://dx.doi.org/10.1182/blood.v122.21.4709.4709.
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Background Thalassemia and hemoglobinopathies are heterogeneous group of inherited disorders that affects men and women equally. HPLC is a valuable method for hemoglobinopathy and/or thalassemia carrier screening. This study evaluate the role of cation exchange HPLC along with adjunctive tests as needed in the diagnosis of thalassaemias/haemoglobinopathies and to see the frequency of these disorders in the Iranian population. Methods This five-year study was conducted on 3780 patients. Initially complete blood count was done by autoanalyzer and then for detection of abnormal hemoglobins HPLC and HB electrophoresis methods was used. In cases with low MCV and MCH indices (MCV<80 fl,MCH<27 pg) and Hb-A2< 3.5% and normal Hb-electrophoresis, α-thalssemia trait(αα/--)was considered in the list of differential diagnosis. In cases with low MCV for exclusion of iron deficiency serum ferritin was meseared. Results Our rerults revealed that 1932 (51.11%) had normal electrophoretic pattern, 781 (20.66%) had β-thallasemia trait and 487(12.84%) had β-thallasemia major or intermedia,328( 8.67% ) had normal electrophoresis along with iron deficiency and 142 ( 3.75%) had normal Hb -electrophoresis and normal iron status but low MCV and MCH indices.We also identified 11(0.29%) with Alpha thalasemia variants Hb-H disease/alpha trait and 22(o.58%)with sickle trait and 18(o.47%)with sickle disease and 9(0.23%) S-Thal double heterozygote and 5(0.13%) with E- trait and 32(0.84%) with Hb-D variant and 1(0.026%) with heterozygote Hb-C variant and 5(0.13%) with Hb-D Iran and 1(0.026%) with Hb-J trait and 1(0.026%) Hb-S/D double heterozygote, and 1(0.026%) with Hb-D/J double heterozygote and 1(0,026%) with Hb-constant spring/ HB-H double heterozygote. Conclusion HPLC is a fast and reliable method in clinical laboratories specially in premarital, and neonatal screening laboratories. Disclosures: No relevant conflicts of interest to declare.
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Graff, Danielle M., Erin Owen, Robert Bendon, Salvatore Bertolone, and Ashok Raj. "Distinctive Acellular Lipid Emboli in Hemoglobin SC Disease following Bone Marrow Infarction with Parvovirus Infection." Case Reports in Hematology 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/328065.
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An adolescent with mild hemoglobin SC disease presented with pelvic pain with subsequent respiratory and neurologic deterioration, which led to ultimately death. The autopsy demonstrated acellular fat emboli particularly in the lung and brain. There was marrow necrosis in the lumbar spine with aggregated sickle cells and positive parvovirus immunostaining. The brain lesion both grossly and microscopically presented a distinct pathology of acellular fat emboli that led to the correct diagnosis of this increasingly recognized association of sickle hemoglobinopathies with fat embolism syndrome (FES). A clinical diagnosis of FES is difficult to confirm in many patients with sickle hemoglobinopathy presenting with pain crisis because of concurrent illness. However, this case report highlights the need for a thorough knowledge of the signs and symptoms of the syndrome and a high index of suspicion for the diagnosis to be made premortem.
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Kim, Jae-Seok, and Hyun Sik Kim. "Diagnosis of hemoglobinopathy and β-thalassemia by 21-Tesla Fourier transform ion cyclotron resonance mass spectrometry." Annals of Translational Medicine 7, S6 (September 2019): S239. http://dx.doi.org/10.21037/atm.2019.07.97.
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Nappe, Thomas M., Anthony M. Pacelli, and Kenneth Katz. "An Atypical Case of Methemoglobinemia due to Self-Administered Benzocaine." Case Reports in Emergency Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/670979.
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Acquired methemoglobinemia is an uncommon hemoglobinopathy that results from exposure to oxidizing agents, such as chemicals or medications. Although, as reported in the adult population, it happens most often due to prescribed medication or procedural anesthesia and not due to easily accessed over-the-counter medications, the authors will describe an otherwise healthy male adult with no known medical history and no prescribed medications, who presented to the emergency department reporting generalized weakness, shortness of breath, headache, dizziness, and pale gray skin. In addition, the patient reported that he also had a severe toothache for several days, which he had been self-treating with an over-the-counter oral benzocaine gel. Ultimately, the diagnosis of methemoglobinemia was made by clinical history, physical examination, and the appearance of chocolate-colored blood and arterial blood gas (ABG) with cooximetry. After 2 mg/kg of intravenous methylene blue was administered, the patient had complete resolution of all signs and symptoms. This case illustrates that emergency physicians should be keenly aware of the potential of toxic hemoglobinopathy secondary to over-the-counter, nonprescribed medications. Discussion with patients regarding the dangers of inappropriate use of these medicines is imperative, as such warnings are typically not evident on product labels.
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Hoppe, Carolyn, Mahin Azimi, Sharon Aslanian, Bertram Lubin, Elliott Vichinsky, and Brad Therrell. "An Effective Program to Resolve Ambiguous Results from State Newborn Hemoglobinopathy Screening." Blood 104, no. 11 (November 16, 2004): 3563. http://dx.doi.org/10.1182/blood.v104.11.3563.3563.
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Abstract Newborn screening (NBS) for hemoglobinopathies is an important mechanism for identification of affected individuals so that prophylactic treatment and comprehensive care are delivered before life-threatening complications occur. Whilst more common Hb variants, such as Hb S and Hb C, are readily identified, many children with other potentially significant Hb variants never have a conclusive diagnosis made by state newborn screening programs. In conjunction with the National Newborn Screening and Genetics Resource Center (NNSGRC), we investigated whether unconfirmed or ambiguous samples could be rapidly diagnosed and reported, using only a portion of the original dried blood spot (DBS) specimen. State NBS programs were approached about sending DBS samples from newborns with ambiguous Hb results for further testing. Using a single 6 mm hole punch from the original DBS, the primary screening results were first confirmed with HPLC, IEF and citrate agar electrophoresis. With the same sample, genotyping for Hb S, C, E, Knossos, D-LA, and O-Arab, and > 95% of the most common β-thalassemia mutations, was performed using a novel linear array platform. Samples revealing Bart’s Hb were tested for common deletional and non-deletional α-thalassemia mutations using gap-PCR or DNA sequencing. The test results, along with a clinical interpretation, were reported back to the NBS programs within 2 weeks. During a one-year period (08/03–08/04), a total of 309 newborn samples from 30 participating states were received for definitive diagnostic testing. Of these, 115 (37%) revealed a clinically significant genotype. Specifically, 102 newborns had sickle cell disease (55 HbSS, 27 HbSC, 16 HbS/β-thal, 3 HbSE, 1 HbS/O-Arab); 6 newborns had β-thalassemia (2 β0-thal, 4 E/β-thal); and 7 had α-thalassemia (5 HbH, 1 HbH-CS, 2 α-triplication). Compound heterozygosity for 2 Hb variants was found in 15 cases and interpreted as clinically insignificant. Another 14 samples revealed a clinically benign HbEE genotype. A Hb variant trait was identified in 124 samples and 41 samples had a normal Hb genotype. This NNSGRC-sponsored pilot study demonstrates that a centralized referral laboratory providing definitive diagnostic testing for hemoglobinopathies is not only feasible, but a much needed resource for many state newborn screening programs. Using rapid and efficient molecular methods, our laboratory identified a clinically significant sickling of thalassemic disorder in 37% of previously unconfirmed newborn samples. Based on these results, the implementation of a referral laboratory to provide prompt definitive diagnosis of clinically relevant hemoglobin variants would be an invaluable extension of existing newborn screening programs.
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Earles, Ann. "Nursing Perspective." Pediatrics 83, no. 5 (May 1, 1989): 901–2. http://dx.doi.org/10.1542/peds.83.5.901.
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Newborn screening may be the single most important recent advance in the treatment of sickle cell disease. However, the efficacy of newborn screening depends on adequate patient education, counseling, and follow-up medical care. In large part, it is the nurse's responsibility to ensure that these follow-up services are provided. The Northern California Comprehensive Sickle Cell Center at Children's Hospital, Oakland, has a regional newborn hemoglobinopathy screening program that identifies approximately 15 newborns with sickle cell disease annually. Obstetrical nurses collect an umbilical cord blood sample from all babies born at the ten participating institutions. Samples are sent to the reference hemoglobinopathy laboratory at Children's Hospital, and diagnostic results are available within 1 week of birth. When a diagnosis of sickle cell disease is made, the genetic counselor discusses the case with the sickle cell nurse coordinator and physician. The responsible private physician and obstetrician are personally notified. In most cases, the family receives a telephone call from the genetic counselor approximately 1 week after the birth. An appointment is then made in the next week for laboratory confirmation of diagnosis and initiation of counseling. At the confirmation appointment, the family and patient are introduced to the sickle cell nurse coordinator, and a comprehensive sickle cell clinic appointment is made for the following week. At this appointment, a "new family letter" introducing the rest of the sickle cell staff is reviewed with the family by the nurse, and a copy is given to the family. This letter outlines the comprehensive services available to patients and contains information to familiarize them with our particular clinical services and policies.
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Greco, Federico, Eliodoro Faiella, Domiziana Santucci, Carlo Augusto Mallio, Marco Nezzo, Carlo Cosimo Quattrocchi, Bruno Beomonte Zobel, and Rosario Francesco Grasso. "Imaging of Renal Medullary Carcinoma." Journal of Kidney Cancer and VHL 4, no. 1 (March 21, 2017): 1–7. http://dx.doi.org/10.15586/jkcvhl.2017.62.
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Renal medullary carcinoma (RMC) is a rare, highly aggressive tumor recognized as an independent pathological entity. African-descent adolescents and young adults with sickle cell hemoglobinopathy are the most affected groups. This rare subtype of renal cell carcinoma has its own morphogenetic and pathological characteristics. The major clinical manifestations include gross hematuria, abdominal or flank pain, and weight loss. The prognosis is very poor, with 95% of cases diagnosed at an advanced stage of the disease. In this review, we summarize the morphologic and dynamic characteristics of RMC under various imaging modalities such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis and management strategies are also discussed.
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Nichols, Noah M., Ashia M. Hackett, Alejandro Carrasquilla, Paul Solodnik, Hang Byun, Salazar Jones, and Zachary L. Hickman. "Intracranial extramedullary hematopoiesis in a patient with beta-thalassemia presenting with head trauma." Surgical Neurology International 13 (November 18, 2022): 542. http://dx.doi.org/10.25259/sni_730_2022.
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Background: Beta-thalassemia is an inherited hemoglobinopathy, whereby reduced or absent expression of beta-globin genes causes impaired erythropoiesis. Extramedullary hematopoiesis (EMH) occurs in 1% of all patients with beta-thalassemia major receiving regular transfusions and is exceedingly rare intracranially. Case Description: We report a case of a male in his 20s with beta thalassemia who presented with head trauma found to have intracranial EMH mimicking multiple extra-axial hematomas. Making the correct diagnosis was critical in avoiding prolonged neuromonitoring and unnecessary interventions. Conclusion: Intracranial extramedullary hematopoietic pseudotumor is an exceedingly rare entity and seldom appears in a neurosurgeon’s differential diagnosis. This case illustrates how this condition can easily mimic an acute intracranial hemorrhage in a patient with beta-thalassemia who presents with head trauma. We review the topic to further inform clinicians who may encounter this condition in their practice.
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Podda, A., R. Galanello, L. Maccioni, MA Melis, C. Rosatelli, L. Perseu, and A. Cao. "Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy." Blood 77, no. 2 (January 15, 1991): 371–75. http://dx.doi.org/10.1182/blood.v77.2.371.371.
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Abstract This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation. Normal sequences were detected at the homologous beta-globin locus. This mutation results in the substitution of a polar (glutamic acid) for a nonpolar (valine) residue near the corner of the heme pocket of the beta-globin chain. The novel variant has been designated Hb Cagliari, from the place of birth of the propositus. Kinetics of globin synthesis performed following splenectomy suggest that this new Hb variant is synthesized at a near normal rate but undergoes rapid breakdown. The extreme lability of the variant explains the clinical and hematologic picture characterized by marked ineffective erythropoiesis, thalassemia-like bone changes, iron overload, high proportion of Hb F in the peripheral blood, reduced beta/alpha-globin chain synthesis ratio in peripheral blood reticulocytes, and absence of the abnormal Hb in peripheral blood at extensive protein structural analysis before splenectomy. This case indicates that a thalassemic hemoglobinopathy should be suspected in the presence of a patient with a thalassemia intermedia-like phenotype born to normal parents, even when protein structural analysis fails to detect an abnormal Hb. DNA sequencing may allow to define the mutation, thus making the proper diagnosis.
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Podda, A., R. Galanello, L. Maccioni, MA Melis, C. Rosatelli, L. Perseu, and A. Cao. "Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy." Blood 77, no. 2 (January 15, 1991): 371–75. http://dx.doi.org/10.1182/blood.v77.2.371.bloodjournal772371.
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This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation. Normal sequences were detected at the homologous beta-globin locus. This mutation results in the substitution of a polar (glutamic acid) for a nonpolar (valine) residue near the corner of the heme pocket of the beta-globin chain. The novel variant has been designated Hb Cagliari, from the place of birth of the propositus. Kinetics of globin synthesis performed following splenectomy suggest that this new Hb variant is synthesized at a near normal rate but undergoes rapid breakdown. The extreme lability of the variant explains the clinical and hematologic picture characterized by marked ineffective erythropoiesis, thalassemia-like bone changes, iron overload, high proportion of Hb F in the peripheral blood, reduced beta/alpha-globin chain synthesis ratio in peripheral blood reticulocytes, and absence of the abnormal Hb in peripheral blood at extensive protein structural analysis before splenectomy. This case indicates that a thalassemic hemoglobinopathy should be suspected in the presence of a patient with a thalassemia intermedia-like phenotype born to normal parents, even when protein structural analysis fails to detect an abnormal Hb. DNA sequencing may allow to define the mutation, thus making the proper diagnosis.
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Park, Eun Sil, Hye Lim Jung, Hee Soon Cho, Jeong-Ok Hah, Sung Sup Park, Hong Hoe Koo, Moon Kyu Kim, et al. "Hereditary Hemolytic Anemia in Korea From 1997 to 2011: A Study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology." Blood 120, no. 21 (November 16, 2012): 5157. http://dx.doi.org/10.1182/blood.v120.21.5157.5157.
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Abstract Abstract 5157 Background: With the development of diagnostic technique, an accurate diagnosis of hereditary hemolytic anemia (HHA)- red blood cell (RBC) membranopathy, hemoglobinopathy, RBC enzymopahty – have been made. Therefore, we surveyed the prevalence and characteristics of patients diagnosed as HHA during recent five years in Korea. Methods: Through the use of questionnaires, information on the clinical and laboratory findings of HHA diagnosed from 2007 to 2011 in Korea was collected. The globin gene analysis (direct sequencing) and RBC enzyme analysis was performed at the representative laboratories. A total of 203 cases were collected in this study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Results: Patients number of RBC membranopathy, hemoglobinopathy, and RBC enzymopahty was 125, 47, and 31, respectively. Percentage of patients with dominant family history was 57% in patients with hereditary spherocytosis (n=116) and dominant symptoms were anemia, jaundice, splenomegaly and gallstones. Osmotic fragility test and flow cytometric method for detection of RBC membrane defect were performed about 60% of patients. RBC membrane protein analysis using sodium dodecyl sulfate polyacrylamide gel electrophoresis was performed on 59 patients. Of the 47 cases of hemoglobinopathies, 36 cases (77%) were β-thalassemia minor, 10 cases (21%) were α-thalassemia minor and one case (2%) was unstable Hb, Hb M-Saskatoon (beta 64 His-→Tyr). Median age at diagnosis was 7 years (range: 6 months–58 years). Eleven of 47 cases (23%) had family history of HHA. As all thalassemia patients were thalassemia minor, they presented with mild jaundice or pallor. Of the 31 patients were diagnosed as RBC membranopathy, pyruvate kinase deficiency was 3 cases and glucose-6 phosphate dehydrogenase deficiency was 2, and other various forms were reported. Conclusions: We could confirm that accurate diagnosis has been made in more patients using elegant diagnostic technique. However, more defined diagnostic approaches were needed in this rare disease and further systematic supporting systems for patients and their families were warranted in public health aspect. Disclosures: No relevant conflicts of interest to declare.
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McFarlane, Andrew G., Linda M. Halchuk, Barry Eng, John Waye, and Mark A. Crowther. "Evaluation of the CapillaryS 2 CE System for Hemoglobinopathy Investigations." Blood 108, no. 11 (November 16, 2006): 3781. http://dx.doi.org/10.1182/blood.v108.11.3781.3781.
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Abstract Traditional diagnosis of hemoglobinopathies rely on separation and accurate quantification of hemoglobin (Hb) fractions using alkaline and acid electrophoresis, isoelectric focusing (IEF) and/or High Performance Liquid Chromatography (HPLC). Recent reports have suggested capillary electrophoresis (CE) as an alternate method for screening. We evaluated a new CE system the Sebia CapillaryS 2 (Evry Cedex, France) and compared it to IEF and HPLC. For this evaluation samples referred to our laboratory for routine hemoglobinopathy screening or as cord bloods sent for confirmation of a variant detected as a result of newborn screening were analyzed using all three techniques. IEF was performed with the Resolve IEF kit (Perkin Elmer,Wallac Oy, Finland). HPLC was done on the BioRad Variant II (Munich, Germany) using the Hb A2/Hb A1c Dual program. The CE was performed using the “Capillarys Hemoglobin(E) kit”. Suspected rare variants were further investigated with DNA investigations, including PCR and direct nucleotide sequencing. Variant hemoglobins were detected in 156 of 764 samples (Table 1). The correlation between IEF, HPLC and CE was excellent. One variant (Hb Toulon) was not detected by the CE but ran with Hb F. The CE system did not report the Hb F value on samples with very low (< 1.0%) Hb F by HPLC. Two cases of Hb Constant Spring were identified by CE but not by either IEF or HPLC. The correlation of both Hb F and Hb A2 reported between the CE and HPLC systems were excellent (R > 0.99 and 0.98, Figure 1 and Figure 2 respectively). The positive bias of Hb A2 seen in HPLC when Hb S is present was lower in the CE. However, the CE system demonstrated a negative bias for Hb A2 if Hb C was present. CE was the only system capable of separating Hb A2 from Hb E. We conclude that CE is comparable to both IEF and HPLC for separation and quantification of hemoglobin fractions; this system has the added advantage of reporting Hb A2 in the presence of Hb E and consistently identifies Hb Constant Spring, which is not easily detected on IEF or HPLC. Further this CE system is user friendly and holds promise as a tool for newborn screening and routine laboratory hemoglobinopathy investigations. Hemoglobinopathy Detected Hemoglobinopathy Number β Thalassemia 99 Hb S trait 55 Cord with Hb Barts 28 Hb C trait 13 Hb E trait 12 Hb D trait 8 α variant (not yet identified) 5 Hb Barts + Hb S trait 4 Hb Barts + Hb D trait 3 Hb S disease 3 Hb Barts + Hb E trait 2 Hb E +β Thalassemia 2 Hb H disease 2 Hb Constant Spring 2 Hb J Baltimore 2 Hb Toulon 2 δ variant (not identified) 2 Hb S + Hb C 1 Hb Barts + Hb C trait 1 Hb Q Thailand + --SEA/αα 1 Homozygous Hb E + Hb Constant Spring 1 Hb S + Hb Kenya 1 Hb J Roviga 1 Hb Beograd 1 Hb G Coushatta 1 Hb Sirian 1 Hb Titusville 1 B variant (not identified yet) 1 Total Abnormal 255 No hemoglobinopathy detected 509 Total 764 Hb F: HPLC vs CE Hb F: HPLC vs CE Hb A2: HPLC vs CE Hb A2: HPLC vs CE
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Jarvis, Michael, Gabor Komaromy-Hiller, and Jean Amos. "Analytical Performance Evaluation of a Linear Array-Based β-Hemoglobinopathy Mutation Assay." Blood 104, no. 11 (November 16, 2004): 3617. http://dx.doi.org/10.1182/blood.v104.11.3617.3617.
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Abstract Routine clinical evaluation of β-globin phenotypes usually includes HPLC screening and alkaline/acid electrophoresis and/or isoelectric focusing. Although common structural variants are easily identified in the routine environment, specific β-thalassemia mutations are not and these can be the basis for prognosis and also for subsequent prenatal diagnosis for at-risk family members. Herein, we report evaluation of the performance of a linear array-based β- hemoglobinopathy mutation assay provided by Roche Molecular Diagnostics (Pleasanton, CA) that detects 6 β-globin variants (S, C, E, Knossos, D-Los Angeles and O-Arab) and 42 β-thalassemia mutations (90% predicted detection in any at-risk population group). The assay consists of one multiplex PCR with biotinylated primers, amplicon hybridization to a reverse line blot array, and colorimetric detection of a streptavidin-HRP conjugate. We tested 50 archived, abnormal and 92 sequential clinical samples, all previously tested in our routine assays. The results of the DNA and HPLC/electrophoresis were 100% consistent with the linear array, although Hb-S, C, D-Los Angeles and E were the only structural variants present in our collection. We verified the presence of Hb-S and excluded Hb-O-Arab in an ambiguous compound heterozygote for which HPLC and electrophoresis could not distinguish possible Hb-C-Harlem from Hb-O-Arab. Of 15 putative β-thalassemia minor samples, 10 had 6 different β-thalassemia mutations. Based on our experience, the daily throughput for a single technologist performing this mutation analysis is approximately 200 samples; it is, thus, an appropriate second-tier assay for newborn screening programs. The assay is robust, reliable and is also an excellent screen prior to sequencing for rare mutations.
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Gangat, Naseema, Jennifer L. Oliveira, James D. Hoyer, Mrinal M. Patnaik, Animesh Pardanani, and Ayalew Tefferi. "High-Oxygen-Affinity Hemoglobinopathy-Associated Erythrocytosis: Clinical Outcomes and Impact of Therapy in 41 Cases." Blood 138, Supplement 1 (November 5, 2021): 1492. http://dx.doi.org/10.1182/blood-2021-153956.
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Abstract Background Approximately 100 high oxygen affinity (HOA) hemoglobin (Hgb) variants have been reported to date; review of the Mayo Clinic laboratory database (1974-2018) identified 80 distinct variants including 12 novel variants (60 β, 20 α). One-third of HOA Hgb variants result in secondary erythrocytosis, provoking concern regarding increased risk for thrombosis. Current management guidelines lack supporting evidence regarding the utilization of phlebotomy in such cases. We describe presenting features, treatment strategies and follow-up events involving 41 consecutive cases seen at our institution. Methods Study patients were recruited from our institutional laboratory and clinical Hgb variant database. Initial evaluation for Hgb variants was conducted by capillary electrophoresis and high-performance liquid chromatography. Additional testing which included mass spectrometry and isoelectric focusing was pursued as necessary. Since the majority of variants were difficult to identify by protein studies, DNA sequencing of HBB, or HBA1, HBA2 genes was performed for confirmation. Symptoms and thrombosis, both at presentation and during follow up, were recorded. Therapeutic interventions were based on physician discretion and mostly included phlebotomy and/or aspirin therapy; a careful response assessment was performed to determine the impact of each therapy on symptoms and/or thrombosis. Results A total of 41 patients with HOA Hgb variant-associated erythrocytosis (median age 39 years, range 1-81; 54% males) were seen at our institution between January 1973 and February 2020. The majority of the patients carried β-chain variants (n=34; 83%), common variants being Hgb Malmo (n=13), Olympia (n=4), San Diego (n=3), and Wood (n=2). Among the 7 patients with α-chain variants, Hgb Dallas was the most frequent (n=4). Presenting median values (range) for Hgb/Hct, serum erythropoietin and p50 were 18 g/dl/52.9%(16-21.9g/dl/48-66%) 10.4 mIU (4-36.3 mIU), and 20 mmHg (12-25 mmHg), respectively. Family history was documented in 34 patients, of which 24 (71%) reported one or more affected family members. Family history of thrombosis was documented in 7 patients (21%). CV risk factors were present in half of the patients; by contrast, history of thrombosis prior to or at diagnosis was documented in only two patients (5%). Of 23 pregnancies reported in 12 women, live birth rate was 78% (n=18); none of the fetal losses were attributed to erythrocytosis. Active therapies at the time of initial referral consisted of phlebotomy (n=12), aspirin (n=11) and systemic anticoagulation (n=1). At a median follow-up of 10 years (range; 0.04-44), 23 patients had reported one or more symptoms, attributed to hyper-viscosity, such as headaches, fatigue, and lightheadedness. Neither Hct level at diagnosis (p=0.32) nor phlebotomy (p=0.16; 75% patients on vs 52% not on phlebotomy) or aspirin therapy (p=0.75; 55% patients on vs 60% not on aspirin) appeared to influence the occurrence of symptoms. Phlebotomy relieved symptoms in 7 (42%) symptomatic patients; however, 7 (30%) of 23 patients on phlebotomy reported one or more adverse symptoms that were attributed to phlebotomy-induced iron deficiency. Ten patients (24%) experienced thrombosis prior to or following diagnosis: 6 arterial and 4 venous. Median age at thrombotic event was 51 years and median hematocrit 52%; active therapies at the time of event included phlebotomy in 5 patients, aspirin in 4, and systemic anticoagulation in 2. Hct level at diagnosis (p=0.10) or the time of event (p=0.67) did not correlate with occurrence of thrombosis. Additionally, the incidence of thrombosis was no different among patients receiving or not receiving phlebotomy (5/23(22%) vs 5/18(28%), respectively; p=0.66). The presence of CV risk factors was predictive of arterial events (p=0.002). Two of the 4 venous events developed in the context of concomitant thrombophilia. Eight patients (20%), median age 28 years, without CV risk factors, were observed without therapy for a median of 9.5 years (range; 0.4-21) and have not experienced any thrombosis to date. Conclusions We found no association between Hct level and either thrombotic or non-thrombotic symptoms in HOA hemoglobinopathy-associated erythrocytosis; furthermore, implementation of aggressive phlebotomy did not provide a clear benefit with respect to thrombosis risk reduction. Figure 1 Figure 1. Disclosures Patnaik: StemLine: Research Funding; Kura Oncology: Research Funding.
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Dzeytova, Dali S., Stanislav S. Shklyaev, Pavel O. Rumyantsev, Marina S. Sheremeta, Alexey A. Trukhin, Nina V. Tsvetaeva, and Evgenii E. Kozhedub. "Radioiodine therapy outcome in toxic multinodular goiter patient with concomitant hereditary Hasharon hemoglobinopathy." Problems of Endocrinology 66, no. 3 (September 16, 2020): 27–32. http://dx.doi.org/10.14341/probl12459.
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This research describes a clinical case of treatment of a patient with thyrotoxicosis with concomitant hematological pathology carriage of unstable hemoglobin Hasharon. A patient diagnosed with Diffuse toxic nodular goiter. Thyrotoxicosis of medium severity. Drug-induced hypothyroidism was admitted to the Department of radionuclide therapy for the purpose of treatment with radioactive iodine. Onset of disease - summer 2018 (thyroid-stimulating hormone (TSH) 0 mIU/ml). The instrumental studies (ultrasound, scintillation scanning of the thyroid gland) were performed at the pre-radioiodine therapy (RIT) diagnostic stage. The history of the disease indicates, that in 2000 the patient was suspected of having abnormal hemoglobin, since then no examinations have been conducted and anemia has never been detected. The diagnosis of ancestral hemoglobinopathy with the presence (17%) of unstable Hasharon-Sinai-Sealy hemoglobin in a heterozygous form was verified during the preparation to RIT. The radionuclide therapy I131 with activity of 400 MBq was performed on 02.07.2019. The monthly monitoring of laboratory and instrumental indicants was carried out during the post-therapeutic period: the state of hypothyroidism was reached by the end of 2 months after RT, no episodes of significant increase in bilirubin levels were observed during the observation period; no side effects from RT were stated. It becomes possible based on the example of the above observation, to judge the safety of conducting RT for treatment of thyrotoxicosis in patients with similar hemoglobinopathy, without excluding, however, the need for an individual approach in each case.
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Kountouris, Petros, Coralea Stephanou, Natasha M. Archer, Fedele Bonifazi, Viviana Giannuzzi, Kevin H. M. Kuo, Aurelio Maggio, et al. "The International Hemoglobinopathy Research Network (INHERENT): An International Initiative to Study the Role of Genetic Modifiers in Hemoglobinopathies." Blood 138, Supplement 1 (November 5, 2021): 948. http://dx.doi.org/10.1182/blood-2021-146078.
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Abstract Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and the varying degree of severity are less understood and are thought to be governed, in part, by genetic modifiers. Despite the identification and characterization of a few genetic modifiers by previous studies, these are as yet insufficient to guide treatment recommendations or stratify patients reliably. Larger, multi-ethnic studies are needed to identify and validate further disease modifiers that can be used for patient stratification and personalized treatment. There is a growing need for deeper insight with the availability of novel targeted therapies and potentially curative options like gene therapy in both SCD and thalassemia. The International Hemoglobinopathy Research Network (INHERENT) is a recently established network with the aim of investigating the role of genetic modifiers in hemoglobinopathies, through a large-scale, multi-ethnic genome-wide association study (GWAS). INHERENT brings together nine existing international or regional consortia in the field of hemoglobinopathies, namely ITHANET, RADeep, ARISE, SPARCO, SADaCC, REDAC, the HVP Global Globin Network, the International Health Repository, and the ClinGen Hemoglobinopathy VCEP. The activities of INHERENT are currently divided into five working groups, as follows: clinical, genotyping, data management and analysis, ethics, and knowledge translation. Participation in INHERENT is open for any group that can submit a minimum number of samples with their core phenotypic description. INHERENT membership is international and interdisciplinary and, currently, includes over 160 experts from 89 organizations, spanning 36 countries worldwide (Figure). INHERENT aims to recruit over 30,000 hemoglobinopathy patients, which is over one order of magnitude larger than any previous GWAS in the field. We demonstrate that the current membership of INHERENT has the potential to reach this sample size target. The large increase in the sample size and the diversity in the studied populations will enable novel discoveries and expand knowledge on hemoglobinopathy genetics, thus paving the way for advancing the science of personalized diagnosis and treatment. Figure 1 Figure 1. Disclosures Archer: Haemonetics: Current equity holder in publicly-traded company. Kuo: Bluebird Bio: Consultancy; Celgene: Consultancy; Alexion: Consultancy, Honoraria; Apellis: Consultancy; Bioverativ: Membership on an entity's Board of Directors or advisory committees; Novartis: Consultancy, Honoraria; Pfizer: Consultancy, Research Funding; Agios: Consultancy, Membership on an entity's Board of Directors or advisory committees. Maggio: Novartis: Membership on an entity's Board of Directors or advisory committees; Celgene Corp: Membership on an entity's Board of Directors or advisory committees; Bluebird Bio: Membership on an entity's Board of Directors or advisory committees. Mañú Pereira: Novartis: Research Funding; Agios Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees, Research Funding.
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Kidd, John, Donald L. Batisky, Constantine A. Stratakis, Adolpho Garnica, Benjamin R. Waller, and Landon B. Pendergrass. "INDEX OF SUSPICION." Pediatrics In Review 16, no. 11 (November 1, 1995): 433–36. http://dx.doi.org/10.1542/pir.16.11.433.
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This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 4-year-old boy who has SC (sickle cell-hemoglobin C) hemoglobinopathy comes to the Resident Practice Group Clinic for a preschool evaluation. At present he has no complaints, although he has had several hospital admissions related to febrile illnesses and painful crises from his sickle cell disease. He has been receiving penicillin prophylaxis and folic acid supplementation. A complete blood count yields the following findings: white blood cell count, 27 900/mm3, with 1% band forms, 19% segmented neutrophils, 26% lymphocytes, 9% monocytes, and 45% eosinophils; hemoglobin, 10.9 g/dL; hematocrit, 31.8%; and platelet count, 464 000/mm3. Further evaluation is undertaken because of his abnormal hematologic picture, revealing two unsuspected conditions. Case 2 Presentation Twins are born after a 29-week first pregnancy to healthy parents.
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Sakhare, Suhas, Caesar Sengupta, Arokiaswamy Velumani, and Sushama Parab. "Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis." Indian Journal of Pathology and Microbiology 57, no. 4 (2014): 626. http://dx.doi.org/10.4103/0377-4929.142709.
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Kropp, GL, S. Fucharoen, and SH Embury. "Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation." Blood 78, no. 1 (July 1, 1991): 26–29. http://dx.doi.org/10.1182/blood.v78.1.26.26.
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Abstract Hemoglobin (Hb) Constant Spring is an alpha-thalassemic hemoglobinopathy that is a major cause of severe alpha-thalassemia in Southeast Asians. The difficulty of diagnosing Hb Constant Spring using standard electrophoretic methods has led to interest in DNA-dependent diagnostic methods. The methods developed have had to contend with the high degree of homology of the alpha 2-globin gene (the site of the Hb Constant Spring mutation) and the alpha 1-globin gene. We have developed a single reaction polymerase chain reaction-based method that uses asymmetric priming and a temperature shift to accomplish dual ends, selective amplification of alpha 2 but not alpha 1 DNA and discrimination of normal and Hb Constant Spring alpha 2 genes by allele- specific fluorescence polymerase chain reaction. Advantages of this method over previous approaches include avoiding radioisotopes, precluding the need for electrophoresis, and serving as its own control for successful amplification. It is readily applicable to routine diagnosis, population screening, and prenatal diagnosis.
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Kropp, GL, S. Fucharoen, and SH Embury. "Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation." Blood 78, no. 1 (July 1, 1991): 26–29. http://dx.doi.org/10.1182/blood.v78.1.26.bloodjournal78126.
Full textAbstract:
Hemoglobin (Hb) Constant Spring is an alpha-thalassemic hemoglobinopathy that is a major cause of severe alpha-thalassemia in Southeast Asians. The difficulty of diagnosing Hb Constant Spring using standard electrophoretic methods has led to interest in DNA-dependent diagnostic methods. The methods developed have had to contend with the high degree of homology of the alpha 2-globin gene (the site of the Hb Constant Spring mutation) and the alpha 1-globin gene. We have developed a single reaction polymerase chain reaction-based method that uses asymmetric priming and a temperature shift to accomplish dual ends, selective amplification of alpha 2 but not alpha 1 DNA and discrimination of normal and Hb Constant Spring alpha 2 genes by allele- specific fluorescence polymerase chain reaction. Advantages of this method over previous approaches include avoiding radioisotopes, precluding the need for electrophoresis, and serving as its own control for successful amplification. It is readily applicable to routine diagnosis, population screening, and prenatal diagnosis.
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Andreadis, Panagiotis, Stamatia Theodoridou, Marily Pasakiotou, Stergios Arapoglou, Eleni Gigi, Evaggelia Vetsiou, and Efthymia Vlachaki. "Vitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events." Case Reports in Hematology 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/478151.
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We herein would like to report an interesting case of a patient who presented with anemia and thrombocytopenia combined with high serum Lactic Dehydrogenase where Thrombotic Thrombocytopenic Purpura was originally considered. As indicated a central venous catheter was inserted in his subclavian vein which led to mediastinal hematoma and finally intubation and Intensive Care Unit (ICU) hospitalization. After further examination patient was finally diagnosed with B12 deficiency in a setting of H hemoglobinopathy. There have been previous reports where pernicious anemia was originally diagnosed and treated as Thrombotic Thrombocytopenic Purpura but there has been none to our knowledge that was implicated with hemothorax and ICU hospitalization or correlated with thalassemia and we discuss the significance of accurate diagnosis in order to avoid adverse reactions and therapy implications.
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Bello, Adriana C. "Hemoglobinopathies Of Difficult Diagnosis. Case Reports From a Main Referral Pediatric Hospital In Venezuela." Blood 122, no. 21 (November 15, 2013): 4698. http://dx.doi.org/10.1182/blood.v122.21.4698.4698.
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Hemoglobinopathies, sickle cell disease and thalassemias, are the most common genetic disorders worldwide, affecting millions of individuals. Diagnosis can take place very early in life, ideally through newborn screening, sometimes later in life. Disease modifying, acute and long term management strategies are provided for specific genotypes, and can be challenging for the treating hematologists. It is essential the adequate diagnosis for the optimal management of these patients. Most diagnosis are made through hemoglobin electrophoresis, high performance liquid chromatography (HPLC) in the majority of cases of thalassemias. However, in some cases the correct diagnosis cannot be made by these methods, and more complex studies are needed, at the molecular level to genetically characterize the disorder. We report a series of 12 patients from the pediatric hematology department from Hospital de Ninhos JM de los Rios, affected by severe congenital hemolytic anemias, who where assessed and managed at this tertiary Referral Center, who did not have definitive diagnoses by conventional methods, in September 2010. They all had presented symptoms from severe anemia since very early age, and where of difficult management through strategies like chronic transfusions, splenectomy or hydroxycarbamide, because lack of definitive diagnosis. Samples were shipped after appropriate consentment to a highly specialized referral laboratory, (Hemoglobin Diagnostic Reverence Laboratory, Boston University School of Medicine), free from any charge, for its molecular characterization. We obtained very accurate and complex results, also very interesting cases, like one unstable hemoglobinopathy from Heinz bodies (Hb Volga) and never before described thalassemic mutations, both homozygous and heterozygous. This was assuring, also reflected in a more appropriate and safer management of our patients. We conclude it is always necessary to establish adequate diagnosis in our patients affected by hemoglobinopathies, for their adequate characterization and management. This will be reflected in a better quality of life. Disclosures: No relevant conflicts of interest to declare.
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Cournoyer, Ghislain, Harry Bard, Xiaoduan Weng, Louise Robin, Carmen Gagnon, and Denis Soulieres. "Hydroxyurea Induces Expression of HbF and Increase of P50 in High Oxygen Affinity Hemoglobinopathy." Blood 104, no. 11 (November 16, 2004): 3730. http://dx.doi.org/10.1182/blood.v104.11.3730.3730.
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Abstract Introduction: A 38-year-old causasian male with hepatomegaly, splenomegaly and erythrocytosis (Ht 69.2%, Hb 217 g/L, MCV 76fl, normal WBC and platelets counts) presented with flank pain found to be a renal artery thrombosis. He had a history of increased Ht since birth without bone marrow (BM), cardiac, pulmonary, renal or cerebral anomalies and for which a diagnosis of a high oxygen affinity hemoglobinopathy was made. The disease had previously been uncomplicated without therapy. Initial evaluation in our center revealed a normal BM morphology, a normal karyotype and an abnormal Hb HPLC (elevated HbF (4.9%) and an abnormal Hb eluting after normal HbA1). The red cell mass was increased at 74.9 ml/kg (normal = 26.5 ml/kg). The oxygen (O2) P50 saturation determined from the Hb-O2 dissociation curve using an Hemox-Analyser was markedly decreased at 6 mmHg (normal = 27 mmHg). α and β globins (gb) HPLC demonstrated normal α, but 100% abnormal β-gb. A diagnosis of a double heterozygote for β-gb gene was established: an allele with mutation causing high affinity for O2 and an allele causing β-thalassemia (thal) minor. Anticoagulation and serial phlebotomies did not improve the erythrocytosis. Therapy with hydroxyurea (HU) was therefore proposed to the patient. Objectives: To determine the β-gb genotype and to evaluate the effect of HU therapy at maximally tolerated dose (MTD) on induction of HbF and its effect on Ht, P50, red cell mass, 2,3-DPG and total HbNO concentrations. Methods and results: Sequencing of the β-gb locus was done by RT-PCR amplified mRNA and by PCR amplified DNA, using primers spanning almost the entire gene (−450 to 601 bp, excluding a small portion of IVS2). Two mutations were identified: Leu96→Val (339C→G) in exon 2, producing Hb Regina, a high O2 affinity hemoglobin variant, and IVS1-110 G/A, a frequent mutation causing β-thal minor. Therapy with HU was initiated at 7 mg/kg/day. Dose was increased to MTD resulting in a dose of 25 mg/kg/day. Table 1 summarizes variations in relevant parameters while on HU therapy. Conclusion: HU rapidly induced HgF and improved measured parameters in this patient with a high O2 affinity Hb/β-thal minor. HU’s effect in this case did not seem to be strictly related to its anti-proliferation properties. Induction of HbF and subsequent increase in P50 probably reduced Epo production (data pending) and erythropoiesis. Modifications in other mediators of O2 release were also modified by HU. The changes in HbNO are not totally consistant with the rest of the data, being increased at 3 months but decreased at 6 months. While on HU therapy, the patient did not present any new complications (thrombotic or other) and clinically reported an improved exercise tolerance. Further evaluation will focus on epigenetic factors affecting HbF expression and correlation of NO level with plasma L-arginine concentration. Time HU dose (mg/kg) Ht (%) HbF (%) P50 (mm/Hg) 2,3-DPG (umol/g Hb) Total HbNO (nM) Red cell mass (ml/kg) NA: not available, TBD: to be determined Baseline 0 61.1 3.6 6 21.3 242.7 74.9 3 months 21 69.4 9.1 6 19.0 694.3 NA 6 months 25 56.9 15.1 9 21.4 105.8 NA 8 months 25 46.7 25.4 TBD TBD TBD 51.7
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Ferreira, Tatiana Dela-Sávia, Adriana Sousa Freire, Elisângela de Paula Silveira-Lacerda, and Marco Túlio Antônio García-Zapata. "A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures." Revista Brasileira de Hematologia e Hemoterapia 34, no. 5 (2012): 339–44. http://dx.doi.org/10.5581/1516-8484.20120089.
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