Chui David H K
Department of Medicine and Pathology, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA.
Ann N Y Acad Sci. 2005;1054:25-32. doi: 10.1196/annals.1345.004.
alpha-Thalassemia mutations are one of the most common mutations of man, and they cause Hb H disease and Hb Barts 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 beta-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.
α地中海贫血突变是人类最常见的突变之一，可导致血红蛋白H病和巴氏水肿胎儿综合征。血红蛋白H病并不像人们普遍认为的那样一定是良性疾病。此外，在中国南方和东南亚，患有必死无疑的巴氏水肿胎儿综合征的胎儿比患有重型或中间型β地中海贫血的胎儿多2至3倍。这些发现凸显了这些遗传性疾病对公共卫生的重要性，也呼吁对这些疾病进行更好的教育、诊断、治疗、预防和研究。
