AUTHOR=Zhang Wei , Wang Xiaoming , Duan Weijia , Xu Anjian , Zhao Xinyan , Huang Jian , You Hong , Brissot Pierre , Ou Xiaojuan , Jia Jidong 

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

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00077

DOI=10.3389/fgene.2020.00077

ISSN=1664-8021

ABSTRACT=<p><italic>HFE</italic>-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the <italic>HFE</italic> 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 <italic>HFE</italic> p.C282Y heterozygosity is virtually absent among East Asians, including Japanese, Koreans, and Chinese. In this article, we report a case of <italic>HFE</italic>-related hemochromatosis caused by compound heterozygosity <italic>HFE</italic> p.C282Y/p.R71X. This is the first report of hemochromatosis associated with <italic>HFE</italic> p.C282Y mutation in China.</p>