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Relevant bibliographies by topics / Thalassaemia intermedia

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Academic literature on the topic 'Thalassaemia intermedia'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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Journal articles on the topic "Thalassaemia intermedia"

1

Sheikha, Anwar, Mohan Kameswaran, B. C. Okafor, and Abdul-Aziz Al-Saigh. "Otological manifestations of thalassaemia intermedia: evidence of temporal bone involvement and report of a unique cholesteatoma-like lesion." Journal of Laryngology & Otology 106, no. 4 (April 1992): 316–21. http://dx.doi.org/10.1017/s0022215100119383.

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AbstractThalassaemia intermedia should be considered in any chronically anaemic patient presenting fromthe Middle East with hearing impairment. We report here three Saudi siblings with thalassaemia intermedia and features of severe bone marrow expansion, particularly invading the temporal bone. They were seen first for their otological problems before they had access to proper haematological evaluation. One member was admitted for surgical exploration of a cholesteatoma, which was then found to be marrow expansion of the temporal bone. Screening of the family revealed twomore anaemic siblings with thalassaemia intermedia. Audiological examination of all the family members showed that only the two affected members had a high frequency sen-sori-neural hearing loss.Bone marrow expansion into the temporal bone is a rare feature of thalassaemia intermedia. Cholesteatoma-like lesion has not been previously described. It has to be considered in all cases of symptomatic thalassaemia intermedia manifesting with cavitation and lytic lesions in the mastoid system. The likelihood that sensorineu-ral hearing loss may complicate the thalassaemias israised and the possible mechanism for such involvement discussed. The proper management for different otological manifestations of the thalassaemias is suggested. These cases would suggest amore extensive involvement of the temporal bone in the thalassaemias than has been previously recognized. Further large scale studies are required to illuminate the subject.

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Saadoon, Mohammed Q., and Bushra H. Ali. "Evaluation and Correlation of Hepcidin-25 Hormone, Hemoglobin and Packed Cell Volume of Patients With β-Thalassaemia Intermedia Before and After Blood Transfusion for Iraqi Children Patients." Ibn AL- Haitham Journal For Pure and Applied Science 31, no. 3 (November 19, 2018): 70. http://dx.doi.org/10.30526/31.3.2013.

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β-thalassaemia consists of 3 chief forms: thalassaemia primary (other called "cooley's Anaemia" or "Mediterranean durability Anaemia"), thalassaemia intermedia or thalassaemia minor also frequent termed "β-thalassaemia carrier", "β-thalassaemia trait" however, "heterozygous β-thalassaemia". separately from the rare magisterial forms, problem along β-thalassaemia essential are homozygotes or made heterozygotes because B0 and B+ genes, problem including thalassaemia intermedia are typically homozygotes and compound heterozygotes then subjected with thalassaemia minor are broadly heterozygotes. In this study, we take eighty humans the age about them had been mean±SD (9.68±2.08), 40 patients along β-thalassaemia intermedia, then 40 healthy people as much control. extraction gore 5ml from thalassaemia's patients before gore transfusion then afterwards take the blood by way of three days. The samples we instituted are 120, forty samples before blood transfusion, 40 samples after gore transfusion then 40 control samples. Then we separated every pattern of twin's tubes. Amplify blood attention about β-thalassaemia intermedia patient since blood advancement due according to minimize degree regarding hepcidin-25 further than its instruction was once shown up iron focus meanly affect through hepcidin-25 level, therefore so hepcidin-25 used to be surprisingly significant exchange in β-thalassaemia intermedia affected person afterwards blood advancement yet so much conduct to iron overload. So we conclude low level of Hemoglobin before and after blood transfusion due to decrease or absent formation of β-globin that because gene disorder, and conclude correlation between hepcidin hormone with Hb and PCV. The aim of this study is to evaluate hepcidin-25 levels, hemoglobin [Hb] and packed cell volume [PCV] before and after blood transfusion, then correlation of hepcidin-25 hormone with [Hb] and [PCV] of children patients with β-thalassaemia intermedia.

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3

Wainscoat, J. S., S. L. Thein, and D. J. Weatherall. "Thalassaemia intermedia." Blood Reviews 1, no. 4 (December 1987): 273–79. http://dx.doi.org/10.1016/0268-960x(87)90029-4.

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4

Singh, A., and S. Varma. "-Thalassaemia intermedia masquerading as -thalassaemia major." Case Reports 2014, no. 28 1 (November 28, 2014): bcr2014207637. http://dx.doi.org/10.1136/bcr-2014-207637.

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5

Tanin, Md Jamal Uddin, Fatiha Tasmin Jeenia, Fahmida Ahamed, and Mushfiqul Abrar. "Demographic and Treatment Status of Thalassaemia Patients in a Tertiary Hospital in Bangladesh." Haematology Journal of Bangladesh 4, no. 02 (December 31, 2020): 44–48. http://dx.doi.org/10.37545/haematoljbd20201.

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Introduction: Thalassaemia is now effectively treated with adequate blood transfusion and iron chelation. The disease process itself and iron overload from blood transfusions together produce multiple complications. Objective: Due to increased life expectancy of thalassaemia patients it is important to point out demographic profiles and clinical history related factors that may vary due to numerous causes. Therefore, objective of this study may lead to know the obstacles to access treatment and to find solutions to prevent complications in our socioeconomic background. Methodology: Three clinical types of thalassaemia were assessed in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. Total 109 subjects with thalassaemia were included in the study according to the inclusion criteria. They were distributed as thalassaemia major (33 subjects), thalassaemia intermedia (34 subjects) and thalassaemia minor (42 subjects). The patients were asked questions regarding demographic status and some clinical histories through a questionnaire. After compilation of the data statistical analysis was done accordingly. Results: The mean age of the subjects in years were 22.7 in thalassaemia major, 22.09 in thalassaemia intermedia and 22.5 in thalassaemia minor with nearly equal gender distributions. Students constituted 27.27% among thalassaemia major, 32.35% among thalassaemia intermedia and 30.95% among thalassaemia minor. The participants were educated up to primary level by 51.52% in thalassaemia major, 47.06 % in thalassaemia intermedia and 57.14 % in thalassaemia minor. Most of the subjects were Muslims and over 75% of the subjects came from outside the Dhaka the city. The mean number of life time transfusions were 105.33 in the patients of thalassaemia major, 33.85 in the intermedia and 0.76 in the minor. Iron chelation were done in 48.48% of thalassaemia major and 17.64% of thalassaemia intermedia at some point of their treatment. Splenectomy was done in 5 (15.15%) of thalassaemia major and 2 (5.8%) in thalassaemia intermedia patients. Before enrolment in the study 9.09% thalassaemia major, 50% intermedia and 83% minor subjects never visited haematologists or haematology OPD. Conclusion: Most of the subjects were at their working age and students and had to take treatment from inter-district facilities. Majority of the patients with thalassaemia intermedia and minor never consulted haematologists. Transfusion frequency was high with inadequate iron chelation.

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6

Rao, K. R. P., and A. R. Patel. "Priapism and thalassaemia intermedia." British Journal of Surgery 73, no. 12 (December 1986): 1048. http://dx.doi.org/10.1002/bjs.1800731236.

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7

Borgna-Pignatti, Caterina. "Modern treatment of thalassaemia intermedia." British Journal of Haematology 138, no. 3 (August 2007): 291–304. http://dx.doi.org/10.1111/j.1365-2141.2007.06654.x.

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8

Qatanani, M., A. Taher, S. Koussa, R. Naaman, C. Fisher, M. Rugless, J. Old, and L. Zahed. "β-Thalassaemia intermedia in Lebanon." European Journal of Haematology 64, no. 4 (April 2000): 237–44. http://dx.doi.org/10.1034/j.1600-0609.2000.90087.x.

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9

Cappellini, Maria D. "Thalassaemia as a Hypercoagulable State." European Oncology & Haematology 07, no. 03 (2011): 214. http://dx.doi.org/10.17925/eoh.2011.07.03.214.

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Although the life expectancy of thalassaemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease. The presence of a high incidence of thromboembolic events, mainly in thalassaemia intermedia, has led to the identification of a hypercoagulable state in these patients. In this article, the molecular and cellular mechanisms leading to hypercoagulability in thalassaemia are highlighted, with a special focus on thalassaemia intermedia, being the type with the highest incidence of thrombotic events as compared with other types of thalassaemia. Clinical experience and available clues regarding optimal management are also discussed.

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10

Badens, C., MG Mattei, AM Imbert, C. Lapouméroulie, N. Martini, G. Michel, and D. Lena-Russo. "A novel mechanism for thalassaemia intermedia." Lancet 359, no. 9301 (January 2002): 132–33. http://dx.doi.org/10.1016/s0140-6736(02)07338-5.

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Dissertations / Theses on the topic "Thalassaemia intermedia"

1

Ho, Phoebe Joy. "The analysis of genetic factors regulating beta globin gene expression." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363959.

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2

Hoyer, Stefanie. "Endokrine Komplikationen bei Kindern mit [beta]-Thalassaemia [Beta-Thalassaemia] major und intermedia Langzeitbeobachtungen an 19 Kindern mit Literaturüberblick /." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=976209896.

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Hoyer, Stefanie [Verfasser]. "Endokrine Komplikationen bei Kindern mit β-Thalassaemia [Beta-Thalassaemia] major und intermedia : Langzeitbeobachtungen an 19 Kindern mit Literaturüberblick / vorgelegt von Stefanie Hoyer." 2005. http://d-nb.info/976209896/34.

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Books on the topic "Thalassaemia intermedia"

1

Rees, David. Haemoglobinopathies. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0172.

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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused by bone marrow expansion, iron overload, endocrinopathy, and iron chelation. Treatment with bisphosphonates is generally recommended. Other rheumatological manifestations include arthropathy associated with the use of the iron chelator deferiprone. Sickle cell disease involves a group of conditions caused by polymerization of the abnormal -globin chain, resulting in abnormal erythrocytes which cause vaso-occlusion, vasculopathy, and ischaemic tissue damage. The characteristic symptom is acute bone pain caused by vaso-occlusion; typical episodes require treatment with opiate analgesia and resolve spontaneously by 5 days with no lasting bone damage. The frequency of acute episodes varies widely between patients. The incidence of osteomyelitis is increased, particularly with salmonella, although it is much rarer than acute vaso-occlusion. Avascular necrosis can affect the hips, and less commonly the shoulders and knees. Coincidental rheumatological disease sometimes complicates the condition, particularly systemic lupus erythematosus (SLE) which is more prevalent in populations at increased risk of sickle cell disease.

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2

Rees, David. Haemoglobinopathies. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199642489.003.0172_update_001.

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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused by bone marrow expansion, iron overload, endocrinopathy, and iron chelation. Treatment with bisphosphonates is generally recommended. Other rheumatological manifestations include arthropathy associated with the use of the iron chelator deferiprone. Sickle cell disease involves a group of conditions caused by polymerization of the abnormal -globin chain, resulting in abnormal erythrocytes which cause vaso-occlusion, vasculopathy, and ischaemic tissue damage. The characteristic symptom is acute bone pain caused by vaso-occlusion; typical episodes require treatment with opiate analgesia and resolve spontaneously by 5 days with no lasting bone damage. The frequency of acute episodes varies widely between patients. The incidence of osteomyelitis is increased, particularly with salmonella, although it is much rarer than acute vaso-occlusion. Avascular necrosis can affect the hips, and less commonly the shoulders and knees. Coincidental rheumatological disease sometimes complicates the condition, particularly systemic lupus erythematosus (SLE) which is more prevalent in populations at increased risk of sickle cell disease.

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Book chapters on the topic "Thalassaemia intermedia"

1

Katz, M., V. De Sanctis, C. Vullo, B. Wonke, M. Ughi, A. Pinamonti, M. Sprocati, M. R. Gamberini, and B. Bagni. "Spermatogenesis in Patients with β-Thalassaemia major and intermedia." In Endocrine Disorders in Thalassemia, 19–24. Milano: Springer Milan, 1995. http://dx.doi.org/10.1007/978-88-470-2183-9_4.

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2

Tyagi, S. "Chapter-22 Thalassaemia Intermedia Syndrome." In Recent Adavnces in Hematology, 358–71. Jaypee Brothers Medical Publishers (P) Ltd., 2004. http://dx.doi.org/10.5005/jp/books/10694_22.

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3

Rees, David. "Haemoglobinopathies." In Oxford Textbook of Rheumatology, 1466–70. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0172_update_002.

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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused by bone marrow expansion, iron overload, endocrinopathy, and iron chelation. Treatment with bisphosphonates is generally recommended. Other rheumatological manifestations include arthropathy associated with the use of the iron chelator deferiprone. Sickle cell disease involves a group of conditions caused by polymerization of the abnormal -globin chain, resulting in abnormal erythrocytes which cause vaso-occlusion, vasculopathy, and ischaemic tissue damage. The characteristic symptom is acute bone pain caused by vaso-occlusion; typical episodes require treatment with opiate analgesia and resolve spontaneously by 5 days with no lasting bone damage. The frequency of acute episodes varies widely between patients. The incidence of osteomyelitis is increased, particularly with salmonella, although it is much rarer than acute vaso-occlusion. Avascular necrosis can affect the hips, and less commonly the shoulders and knees. Coincidental rheumatological disease sometimes complicates the condition, particularly systemic lupus erythematosus (SLE) which is more prevalent in populations at increased risk of sickle cell disease.

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4

Hay, Deborah, and David J. Weatherall. "Disorders of the synthesis or function of haemoglobin." In Oxford Textbook of Medicine, edited by Chris Hatton and Deborah Hay, 5426–50. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0537.

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The inherited disorders of haemoglobin are the commonest single-gene disorders in the world. Disorders of haemoglobin can be genetic or acquired and due to disordered production of one or more globin chains or structural change in the globin chain. The most important disorders are the genetic conditions thalassaemia and sickle cell disease. Thalassaemia—a heterogeneous group of genetic disorders, all resulting from a reduced rate of production of one or more of the globin chains of haemoglobin and inherited in a simple Mendelian fashion. They are clinically classified according to their severity into major (a severe transfusion-dependent disorder), intermediate (characterized by anaemia and splenomegaly), and minor (a symptomless carrier state) forms. The β‎ thalassaemias are the most important types of thalassaemia because they are very common and produce severe anaemia in their homozygous and compound heterozygous states. Most countries in which the disease is common are putting a major effort into programmes for its prevention (population screening and prenatal diagnosis). Symptomatic management of severe disease requires regular blood transfusion, judicious use of splenectomy if hypersplenism develops, and chelating agents to reduce iron overload. Sickle cell disease—haemoglobin S differs from haemoglobin A by the substitution of valine for glutamic acid at position 6 in the β‎ globin chain, and homozygosity for haemoglobin S produces the state of sickle cell disease. This occurs very frequently in African populations and, sporadically, throughout the Mediterranean region and the Middle East, with extensive pockets in India. Management of both acute and chronic complications remains largely supportive, with hydroxycarbamide being the only clinically proven effective treatment to date.

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