一名中国患者的HFE相关血色素沉着症：首例报告病例
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.
作者信息
Zhang Wei, Wang Xiaoming, Duan Weijia, Xu Anjian, Zhao Xinyan, Huang Jian, You Hong, Brissot Pierre, Ou Xiaojuan, Jia Jidong
机构信息
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China.
Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China.
出版信息
Front Genet. 2020 Feb 21;11:77. doi: 10.3389/fgene.2020.00077. eCollection 2020.
-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the p.C282Y mutation is present in 1/10 people of northern European descent, resulting in one in two hundred people will be homozygous. However, the p.C282Y heterozygosity is virtually absent among East Asians, including Japanese, Koreans, and Chinese. In this article, we report a case of -related hemochromatosis caused by compound heterozygosity p.C282Y/p.R71X. This is the first report of hemochromatosis associated with p.C282Y mutation in China.
与[疾病名称]相关的血色素沉着症是欧洲人群中最常见的遗传性铁过载疾病，尤其是北欧或凯尔特血统的人群。据报道，p.C282Y突变存在于十分之一的北欧血统人群中，导致每两百人中有一人为纯合子。然而，在东亚人群（包括日本人、韩国人和中国人）中几乎不存在p.C282Y杂合子。在本文中，我们报告了一例由复合杂合子p.C282Y/p.R71X引起的与[疾病名称]相关的血色素沉着症病例。这是中国首例与p.C282Y突变相关的血色素沉着症报告。
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