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

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.

journal_name

Front Genet

journal_title

Frontiers in genetics

authors

Zhang W,Wang X,Duan W,Xu A,Zhao X,Huang J,You H,Brissot P,Ou X,Jia J

doi

10.3389/fgene.2020.00077

subject

Has Abstract

pub_date

2020-02-21 00:00:00

pages

77

issn

1664-8021

journal_volume

11

pub_type

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