Frontiers in Genetics (Feb 2020)
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
- Wei Zhang,
- Wei Zhang,
- Wei Zhang,
- Xiaoming Wang,
- Xiaoming Wang,
- Xiaoming Wang,
- Weijia Duan,
- Weijia Duan,
- Weijia Duan,
- Anjian Xu,
- Anjian Xu,
- Anjian Xu,
- Xinyan Zhao,
- Xinyan Zhao,
- Xinyan Zhao,
- Jian Huang,
- Jian Huang,
- Jian Huang,
- Jian Huang,
- Hong You,
- Hong You,
- Hong You,
- Pierre Brissot,
- Xiaojuan Ou,
- Xiaojuan Ou,
- Xiaojuan Ou,
- Jidong Jia,
- Jidong Jia,
- Jidong Jia
Affiliations
- Wei Zhang
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Wei Zhang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Wei Zhang
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Xiaoming Wang
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Xiaoming Wang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Xiaoming Wang
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Weijia Duan
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Weijia Duan
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Weijia Duan
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Anjian Xu
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Anjian Xu
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Anjian Xu
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Xinyan Zhao
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Xinyan Zhao
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Xinyan Zhao
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Jian Huang
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Jian Huang
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Jian Huang
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Jian Huang
- Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China
- Hong You
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Hong You
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Hong You
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Pierre Brissot
- Institut NuMeCan, InsermU-1241, University of Rennes1, Rennes, France
- Xiaojuan Ou
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Xiaojuan Ou
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Xiaojuan Ou
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- Jidong Jia
- Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China
- Jidong Jia
- Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China
- Jidong Jia
- Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China
- DOI
- https://doi.org/10.3389/fgene.2020.00077
- Journal volume & issue
-
Vol. 11
Abstract
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.
Keywords
