Chui David H K
Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
Ann Hum Biol. 2005 Mar-Apr;32(2):123-30. doi: 10.1080/03014460500075084.
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.
α地中海贫血突变很常见。在东南亚，它们会导致血红蛋白H病和巴氏水肿胎儿综合征。由于完全缺乏α珠蛋白基因而患有毁灭性巴氏水肿胎儿综合征的胎儿会在子宫内或出生后不久死亡，通常是在妊娠中期或晚期。最近对只有一个活性α珠蛋白基因的血红蛋白H病患者的研究结果表明，该疾病并不一定如之前认为的那样是一种良性疾病。这些综合征的疾病负担及其对公共卫生的重要性在很大程度上被忽视了。我们回顾了α地中海贫血的人群携带频率，并总结了这些常见遗传疾病的临床特征、诊断方法、咨询和管理。我们提出了几项切实可行的建议，如果实施，可着手解决该地区这些常见疾病的协作和改善护理问题。
