Interaction of Alpha and Beta Thalassaemia Genes in Two Sardinian Families

Summary. Our paper describes two Sardinian families with α‐β thalassaemia interaction. In the first (family S), the propositus, whose haemoglobin pattern at birth consisted of about 25% Hb Bart's and 75% Hb F, successively developed a clinical and haematological picture typical of Cooley's anaemia. Haematological and globin chain synthesis studies together with these findings suggest that he is homozygous for β0 thalassaemia and heterozygous for α thalassaemia‐1 and α thalassaemia‐2. This conclusion is further substantiated by the finding of various combination of α and β thalassemia among his family members.

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