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

Wei Zhang (1) , Xiaoming Wang (1) , Weijia Duan (1) , Anjian Xu (1) , Xinyan Zhao (1) , Jian Huang (1) , Hong You (1) , Pierre Brissot (2) , Xiaojuan Ou (1) , Jidong Jia (1)

1 CUMS - Capital University of Medical Sciences [Beijing]
2 NuMeCan - Nutrition, Métabolismes et Cancer

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.

Keywords: Chinese; HFE; compound heterozygosity; hemochromatosis; iron overload

Domains: Life Sciences [q-bio]

Wei Zhang, Xiaoming Wang, Weijia Duan, Anjian Xu, Xinyan Zhao, et al.. HFE-Related Hemochromatosis in a Chinese Patient The First Reported Case. Frontiers in Genetics, 2020, 11, pp.77. ⟨10.3389/fgene.2020.00077⟩. ⟨hal-02533411⟩