Most patients homozygous for β thalassaemia have β thalassemia major, a severe illness requiring regular blood transfusions. However, some homozygotes remain well without regular transfusions and are described by the term thalassaemia intermedia. Three factors have now been identified which may result in β thalassaemia intermedia: the inheritance of mild β+thalassaemia mutations, the co-inheritance of α thalassaemia and the inheritance of factors enhancing γ-globin gene expression. In addition other less common genetic interactions also result in thalassaemia intermedia such as the compound heterozygous state for β and δβ thalassaemia. These patients need careful clinical follow up, especially since the complications of hypersplenism and iron overload (even in the absence of blood transfusion) can occur. © 1987.
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