Thalassemia. Etiology, Pathogenesis, Clinical Picture, Diagnosis, Treatment
Keywords:
Ineffective erythropoiesis, iron overload, hemoglobinopathiesAbstract
Thalassemias are a group of inherited hemoglobinopathies caused by a quantitative deficiency in the synthesis of α- or β-globin chains of hemoglobin, leading to chronic hemolytic anemia of varying severity.
References
Cappellini M.D., Porter J.B., Taher A.T., Viprakasit V. Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). 4th ed. Nicosia: Thalassaemia International Federation; 2021.
Vos T., Lim S.S., Abbafati C., et al. Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021. Lancet. 2023;401(10380):121–159.
Taher A.T., Musallam K.M., Cappellini M.D. β-Thalassemias. N Engl J Med. 2021;384(8):727–743.
Porter J.B., Garbowski M.W. Consequences and management of iron overload in β-thalassemia. Hematology Am Soc Hematol Educ Program. 2019;2019(1):337–345.
Pennell D.J., Udelson J.E., Arai A.E., et al. Cardiovascular function and treatment in β-thalassemia major: A consensus statement. Circulation. 2013;128(3):281–308.
FDA. Zynteglo (betibeglogene autotemcel) – Biologics License Application Approval Letter. U.S. Food and Drug Administration; 2022.
FDA. Mitapivat (Aqvesme) – Approval for treatment of anemia in thalassemia. U.S. Food and Drug Administration; 2026.
Galanello R., Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5:11.
Weatherall D.J., Clegg J.B. The Thalassaemia Syndromes. 4th ed. Oxford: Blackwell Science; 2001.
Taher A.T., Saliba A.N. Iron overload in thalassemia: different organs at different rates. Hematology. 2017;2017(1):265–271.
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