遗传性血色病的基因诊断

韩悦; 张欣欣

doi:10.3969/j.issn.1001-5256.2019.08.004

遗传性血色病的基因诊断

DOI: 10.3969/j.issn.1001-5256.2019.08.004

韩悦,
张欣欣

上海交通大学医学院附属瑞金医院临床病毒研究室

详细信息

中图分类号: R440;R596
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出版历程
- 收稿日期: 2019-05-16
- 出版日期: 2019-08-20

Genetic diagnosis of hereditary hemochromatosis

Research Laboratory of Clinical Virology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine

摘要

摘要: 临床铁负荷过量并不罕见,其中累及肝脏的血色病最为常见。与高加索人群遗传背景不同的是,亚洲人群经典的HFE血色病发病率极低。欧美研究及国际指南主要针对HFE型,各指南间一致性较低,亚洲数据缺乏。因此,对已知的遗传性血色病根据致病基因,结合中国数据分节论述,以期对临床提供参考,有助于中国人群的血色病诊断及研究。
- 血色素沉着症 /
- 诊断 /
- 基因成分
Abstract: Iron overload is not rarely seen in clinical practice, and hemochromatosis involving the liver is the most common type of iron overload. There is an extremely low incidence rate of the classic form of HFE hereditary hemochromatosis in the Asian population, which is different from the genetic background of the Caucasian population. European and American studies and international guidelines mainly focus on the HFE type, and there is low consistency between guidelines, with a lack of data from the Asian population. Therefore, with reference to the pathogenic genes of hereditary hemochromatosis and related data in China, this article discusses the genetic diagnosis of hereditary hemochromatosis, in order to provide a reference for the diagnosis and studies of hemochromatosis in the Chinese population.
- hemochromatosis /
- diagnosis /
- gene components

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参考文献(58)

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