Alpha-thalassaemia and population health in Southeast Asia.
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 alpha-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 alpha-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 alpha-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.
Chui
David H K
DH
Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA. david.chui@bmc.org
D001210:Asia, Southeastern / Q000453:epidemiology; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy
D005914:Globins; D006447:Hemoglobin H