α地中海贫血综合征的可变临床表型。
Variable clinical phenotypes of alpha-thalassemia syndromes.
作者信息
Singer Sylvia Titi
机构信息
Hematology/Oncology Department, Children's Hospital and Research Center (CHRCO), Oakland, CA, USA.
出版信息
ScientificWorldJournal. 2009 Jul 13;9:615-25. doi: 10.1100/tsw.2009.69.
Abstract
Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of alpha-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other alpha-thalassemia variants) call for more attention for improved screening methods and better care.
摘要
α基因的基因突变在全球范围内都很常见。在亚洲，尤其是东南亚地区，这些突变可导致具有临床意义的α地中海贫血类型，即血红蛋白（Hb）H病和Hb Bart水肿胎儿综合征。后者通常是一种致命的宫内疾病，而Hb H病会导致一些经常被忽视的临床并发症。携带者状态的高流行率以及这些疾病（和其他α地中海贫血变异型）带来的负担，需要人们更多地关注改进筛查方法和提供更好的治疗。
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