A genetic combination of silent β-thalassaemia, high Hb A2 β-thalassaemia, and single α globin gene deletion causing mild thalassaemia intermedia

Abstract

This paper reports a Sardinian patient, who was a compound heterozygote for silent β-thalassaemia and high Hb A2 β° - thalassaemia with the clinical phenotype of mild thalassaemia intermedia; α globin gene mapping showed a single α globin gene deletion. The reduced α globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.