Yfip Thalassaemias

These rare conditions result from long deletions of the P-globin gene cluster, which involve the P-globin LCR (Figure 6.8). There is no output from the globin genes of the cluster. Clearly, the homozygous state would not be compatible with survival. Heterozygotes have severe haemolytic disease of the newborn, with anaemia and hyperbilirubinaemia. If they survive the neonatal period, they grow and develop normally; in adult life they have the haematological picture of heterozygous P-thalassaemia, with mild anaemia, hypochromic microcytic red cells and a haemoglobin pattern of normal HbA2 P-thalassaemia.

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