HFE-Related Hemochromatosis in a Chinese Patient The First Reported Case - Archive ouverte HAL Access content directly
Journal Articles Frontiers in Genetics Year : 2020

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

(1) , (1) , (1) , (1) , (1) , (1) , (1) , (2) , (1) , (1)
1
2

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.
Fichier principal
Vignette du fichier
pdf (915.65 Ko) Télécharger le fichier
Origin : Publisher files allowed on an open archive

Dates and versions

hal-02533411 , version 1 (06-04-2020)

Licence

Attribution - CC BY 4.0

Identifiers

Cite

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⟩
16 View
30 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More