Alpha-thalassaemia and population health in Southeast Asia

Abstract

Alpha-thalassaemia mutations are common. In Southeast Asia, they cause Hb H disease and Hb Barts hydrops fetalis. Fetuses with the devastating Hb Barts hydrops fetalis due to the complete lack of α-globin gene die in utero or shortly after birth, often during the second or third trimesters. Recent findings on patients with Hb H disease who have only one active α-globin gene suggest that it is not necessarily a benign disorder as previously thought. The disease burden of these syndromes and their public health importance have been largely neglected. We review the population carrier frequencies of α-thalassaemia, and summarize the clinical features, diagnostic approaches, counselling and management of these common genetic disorders. Several practical proposals are made that, if implemented, can begin to address the issues of collaboration and improvement for care of these common diseases in the region.

• Hb Barts hydrops fetalis
• Hb H disease
• genetic counselling
• prenatal diagnosis