Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia.

Five patients with heterozygous beta-thalassaemia with an unusually severe clinical picture, low haemoglobin levels occasionally requiring blood transfusion, splenomegaly and unusually prominent basophilic stippling were found to have co-inherited a triple alpha-globin gene arrangement on one chromosome (alpha alpha alpha/alpha alpha). It seems probable that the expression of a single extra alpha-globin gene is sufficient in some patients with heterozygous beta-thalassaemia to give rise to a clinically significant degree of dyserythropoietic anaemia.