HEMATOLOGICAL PHENOTYPES IN A FAMILY WITH TRIPLICATED ALPHA-GLOBIN GENE, BETA(39) AND DELTA+(27) THALASSEMIA MUTATIONS

In this paper we report an unusual Sardinian family, in which the heterozygosity for beta-degrees-39-thalassaemia and for triple alpha-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 delta+ 27-thalassaemia point mutation, which in trans to the beta-degrees-39 defect invariably normalizes the HbA2 levels.