Publication year: 2020
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Inherited haemoglobin disorders, including thalassemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassemia and β-thalassemia, including the co-inheritance of β-thalassemia with haemoglobin E resulting in haemoglobin E/β-thalassemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, compensatory hemopoietin expansion, hypercoagulability, and increased intestinal iron absorption. The complications of iron overload, arising from transfusions that represent the basis of disease management in most patients with severe thalassemia. The mature Hb molecule is a tetramer composed of 2 a-globin and 2 b-globin polypeptides, which assemble, along with a heme prosthetic group, to form the complete molecule.