Thalassemia is an inherited group of haemoglobinopathies characterised by reduced or absent synthesis of one or more of the globin chains that form haemoglobin, the oxygen-carrying protein of red blood cells. The disorders are classified by the affected chain: alpha thalassemia results from deletion or dysfunction o…
Thalassemia is an inherited group of haemoglobinopathies characterised by reduced or absent synthesis of one or more of the globin chains that form haemoglobin, the oxygen-carrying protein of red blood cells. The disorders are classified by the affected chain: alpha thalassemia results from deletion or dysfunction of the alpha-globin genes, while beta thalassemia arises from mutations impairing beta-globin production. Imbalanced globin synthesis leads to ineffective erythropoiesis, premature destruction of red cells, and chronic anaemia of variable severity, ranging from clinically silent carrier states to transfusion-dependent major forms. Pathophysiological consequences include marrow expansion, splenomegaly, growth impairment, and, in chronically transfused patients, iron overload affecting the heart, liver, and endocrine organs. Management spans regular transfusion, iron chelation, splenectomy in selected cases, and, increasingly, curative approaches. Research within haematology examines the broader clinical burden of the condition, including reduced physical activity and functional capacity in affected patients compared with healthy controls, as well as overlapping considerations in related inherited red-cell disorders such as sickle cell disease and compound heterozygous haemoglobin states presenting in pregnancy. Studies of transfusion practice, blood donation, and patient education further inform care, situating thalassemia within the wider landscape of inherited anaemias and supportive haematological treatment.
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