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Medical Science OPEN ACCESS

Thalassemia. Etiology, Pathogenesis, Clinical Picture, Diagnosis, Treatment

Norbibi Yadgarova
Tashkent State Medical University, Uzbekistan
tajmspr 2026
VOL. 8 / NO. 2 FEBRUARY
VOLUME 8
ISSUE 2
YEAR 2026
PAGES 194-199

Abstract

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.

Keywords

Ineffective erythropoiesis iron overload hemoglobinopathies

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References

  1. 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.
  2. 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.
  3. Taher A.T., Musallam K.M., Cappellini M.D. β-Thalassemias. N Engl J Med. 2021;384(8):727–743.
  4. 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.
  5. 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.
  6. FDA. Zynteglo (betibeglogene autotemcel) – Biologics License Application Approval Letter. U.S. Food and Drug Administration; 2022.
  7. FDA. Mitapivat (Aqvesme) – Approval for treatment of anemia in thalassemia. U.S. Food and Drug Administration; 2026.
  8. Galanello R., Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5:11.
  9. Weatherall D.J., Clegg J.B. The Thalassaemia Syndromes. 4th ed. Oxford: Blackwell Science; 2001.
  10. 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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