HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

Frontiers in Genetics

Jian Huang²  Anjian Xu²  Pierre Brissot³  Wei Zhang⁵  Jidong Jia⁵  Xinyan Zhao⁵  Hong You⁵  Xiaoming Wang⁵  Xiaojuan Ou⁵  Weijia Duan⁵ 

[1] Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China;Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China;Institut NuMeCan, InsermU-1241, University of Rennes1, Rennes, France;Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China;Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China;

关键词: HFE;    compound heterozygosity;    hemochromatosis;    iron overload;    Chinese;   

DOI  :  10.3389/fgene.2020.00077

来源: DOAJ

【 摘 要 】

HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the HFE 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 HFE p.C282Y heterozygosity is virtually absent among East Asians, including Japanese, Koreans, and Chinese. In this article, we report a case of HFE-related hemochromatosis caused by compound heterozygosity HFE p.C282Y/p.R71X. This is the first report of hemochromatosis associated with HFE p.C282Y mutation in China.

【 授权许可】

Unknown