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遗传性血色病的基因诊断
Genetic diagnosis of hereditary hemochromatosis
文章发布日期:2019年07月05日  来源:  作者:韩悦,张欣欣  点击次数:161次  下载次数:52次

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【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。
【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.
【关键字】:血色素沉着症; 诊断; 基因成分
【Key words】:hemochromatosis; diagnosis; gene components
【引证本文】:HAN Y, ZHANG XX. Genetic diagnosis of hereditary hemochromatosis[J]. J Clin Hepatol, 2019, 35(8): 1673-1679. (in Chinese)
韩悦, 张欣欣. 遗传性血色病的基因诊断[J]. 临床肝胆病杂志, 2019, 35(8): 1673-1679.

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