HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
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 homozyg...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00077/full |
| _version_ | 1818600247092314112 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Wei Zhang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T12:32:27Z |
| format | Article |
| id | doaj.art-c194f4d027a148b98e5e2f4bdd5ae695 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-16T12:32:27Z |
| publishDate | 2020-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-c194f4d027a148b98e5e2f4bdd5ae6952022-12-21T22:31:40ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-02-011110.3389/fgene.2020.00077505459HFE-Related Hemochromatosis in a Chinese Patient: The First Reported CaseWei Zhang0Wei Zhang1Wei Zhang2Xiaoming Wang3Xiaoming Wang4Xiaoming Wang5Weijia Duan6Weijia Duan7Weijia Duan8Anjian Xu9Anjian Xu10Anjian Xu11Xinyan Zhao12Xinyan Zhao13Xinyan Zhao14Jian Huang15Jian Huang16Jian Huang17Jian Huang18Hong You19Hong You20Hong You21Pierre Brissot22Xiaojuan Ou23Xiaojuan Ou24Xiaojuan Ou25Jidong Jia26Jidong Jia27Jidong Jia28Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaExperimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaExperimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaInstitut NuMeCan, InsermU-1241, University of Rennes1, Rennes, FranceLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaLiver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, ChinaClinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, ChinaLiver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, ChinaHFE-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.https://www.frontiersin.org/article/10.3389/fgene.2020.00077/fullHFEcompound heterozygosityhemochromatosisiron overloadChinese |
| spellingShingle | 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 HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case Frontiers in Genetics HFE compound heterozygosity hemochromatosis iron overload Chinese |
| title | HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case |
| title_full | HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case |
| title_fullStr | HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case |
| title_full_unstemmed | HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case |
| title_short | HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case |
| title_sort | hfe related hemochromatosis in a chinese patient the first reported case |
| topic | HFE compound heterozygosity hemochromatosis iron overload Chinese |
| url | https://www.frontiersin.org/article/10.3389/fgene.2020.00077/full |
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