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范可尼贫血发病机制的研究进展 被引量：4

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摘要 范可尼贫血（Fanconianemia，FA）是一种罕见的常染色体隐性遗传病，其发病率约为10～50／10万，基因携带率约为1／200～1／300。本病在各种人群中均有发现．在某些种族人群中发病率异常增高，如在德系犹太人和荷裔南非人中FA基因携带率约为1／90，而近年的研究证实西班牙吉普赛人拥有全球最高的FA发病率，其基因携带率高达1／64～1／70。FA临床特征性表现为缓慢的、进行性的骨髓衰竭，多发性先天性畸形及恶性肿瘤的易患性。
作者 余士俊 赵维莅
机构地区 上海交通大学医学院附属瑞金医院血液科
出处 《诊断学理论与实践》 2010年第3期285-289,共5页 Journal of Diagnostics Concepts & Practice
关键词 范可尼贫血 机制 遗传
分类号 R556.9 [医药卫生—血液循环系统疾病]
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参考文献47

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同被引文献19

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诊断学理论与实践
2010年 第3期

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