Haematological phenotypes in a family with triplicated α-globin gene, β∘39 and δ+27 thalassaemia mutations

Summary In this paper we report an unusual Sardinian family, in which the heterozygosity for β∘39-thalassaemia and for triple α-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a δ+27-thalassaemia point mutation, which in trans to the β∘39 defect invariably normalizes the HbA2 levels.