Abstrakt

Survey of hemoglobinopathies in Central Vietnam: Identification of a novel ?-globin gene mutation (HBB:c.-122T>A)

Monica Pirastru, Laura Manca, Chau Quynh Nguyen, Paolo Mereu

The thalassemias, together with sickle cell disease (HBB: c. 20A>T), are the world ? s most common form of inherited anemia. The myriad manifestations of thalassemia result from the imbalanced synthesis of ?-like and non-?-like globin chains and from the accumulation of unpaired counterpart. Unpaired globin chains are unstable: they form intracellular aggregates which are insoluble and precipitate causing decreased deformability, membrane damage and selective removal of the damaged cell. Ineffective erythropoiesis and shortened red cell survival will lead to chronic anemia.