Pathophysiology

Pathophysiology
of thalassemia

Ineffective erythropoiesis and hemolysis are key drivers of chronic anemia1-5

Left unmanaged, chronic anemia may lead to serious complications, underscoring the importance of addressing these underlying mechanisms.

Depiction of thalassemia pathophysiology, which includes disrupted red blood cell production (ineffective erythropoiesis) and increased destruction (hemolysis), causing anemia.
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Defects in alpha or beta globin genes cause imbalanced globin chain production, leading to globin chain aggregates that induce oxidative stress and increase ATP demand in thalassemic RBCs.4

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Oxidative stress and globin chain aggregates can trigger a series of pathophysiological events leading to ineffective erythropoiesis and hemolysis, which result in chronic anemia.5,6

ATP=adenosine triphosphate. 

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References:

1. Cappellini MD et al, eds. 2021 Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). 4th ed. Thalassaemia International Federation; 2021. 2. Taher AT et al. Guidelines for the Management of Non–Transfusion-Dependent β-Thalassaemia. 3rd ed. Thalassaemia International Federation; 2023. 3. Amid A et al, eds. Guidelines for the Management of α-Thalassaemia. Thalassaemia International Federation; 2023. 4. Kuo KHM. Hematology Am Soc Hematol Educ Program. 2023;2023(1):114-120. doi:10.1182/hematology.2023000468 5. Taher AT et al. Lancet. 2018;391(10116):155-167. doi:10.1016/S0140-6736(17)31822-6 6. Taher AT et al. N Engl J Med. 2021;384(8):727-743. doi:10.1056/NEJMra2021838