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

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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Bibliographic Details
Main Authors: Wei Zhang, Xiaoming Wang, Weijia Duan, Anjian Xu, Xinyan Zhao, Jian Huang, Hong You, Pierre Brissot, Xiaojuan Ou, Jidong Jia
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
HFE
compound heterozygosity
hemochromatosis
iron overload
Chinese
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00077/full
Description
Summary: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.
ISSN:1664-8021

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