| Autor: |
Wei Zhang, Xiaoming Wang, Weijia Duan, Anjian Xu, Xinyan Zhao, Jian Huang, Hong You, Pierre Brissot, Xiaojuan Ou, Jidong Jia |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Frontiers in Genetics, Vol 11 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1664-8021 |
| DOI: |
10.3389/fgene.2020.00077 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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