α-thalassemia: Hb H disease and Hb Barts hydrops fetalis

Abstract

α-Thalassemia mutations are one of the most common mutations of man, and they cause Hb H disease and Hb Baits hydrops fetalis. Hb H disease is not necessarily a benign disorder as has been generally thought. Furthermore, in southern China and in Southeast Asia, there are 2-3 times more fetuses afflicted with the invariably fatal Hb Barts hydrops fetalis than with the β-thalassemia major or intermedia. These findings underscore the public health importance of these hereditary disorders, and they call for better education, diagnosis, treatment, prevention, and research for these diseases. © 2005 New York Academy of Sciences.