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ß Thalassaemia - LearnHaem | Haematology Made Simple

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ß Thalassaemia ß thalassaemia results from deletions in the ß [...]

View Larger Image ß Thalassaemia ß Thalassaemia ß thalassaemia results from deletions in the ß globin gene. A normal human has 2 ß globin genes. Deletions in ß genes result in imbalanced synthesis of α globins and ß globins. As a result, excess free α globin chains accumulate and precipitate in red cell precursors, interfering with maturation and resulting in intramedullary destruction of erythroid precursors. This is known as ineffective erythropoiesis . The RBCs that enter the circulating contain varying amounts of free α globin (the amount increases with the phenotypic severity of the ß tha

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