INTERACTION OF THE α2 POLYADENYLATION SIGNAL MUTATION (AATAAA → AATA– –) AND α⁰-THALASSEMIA (– –^SEA), RESULTING IN Hb H DISEASE IN A THAI PATIENT

Abstract

We report a Thai boy with a compound heterozygosity for the α2 polyadenylation signal mutation (AATAAA → AATA– –) and α⁰-thalassemia (– –^SEA), who suffered from Hb H disease with more severe clinical symptoms than those usually observed with deletional Hb H disease. His Hb H level was as high as 52% of total hemoglobin. The hematologic data of this unusual case of Hb H disease was compared with those of Hb H disease with a homozygosity for the α2 polyadenylation signal mutation, and compound heterozygosity of the α2 polyadenylation signal mutation and α⁰-thalassemia. A simple DNA assay based on an allele specific polymerase chain reaction for the detection of this polyadenylation signal mutation is described.