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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Wei, Wang, Xiaoming, Duan, Weijia, Xu, Anjian, Zhao, Xinyan, Huang, Jian, You, Hong, Brissot, Pierre, Ou, Xiaojuan, Jia, Jidong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048005/
https://www.ncbi.nlm.nih.gov/pubmed/32153640
http://dx.doi.org/10.3389/fgene.2020.00077
_version_ 1783502220410486784
author Zhang, Wei
Wang, Xiaoming
Duan, Weijia
Xu, Anjian
Zhao, Xinyan
Huang, Jian
You, Hong
Brissot, Pierre
Ou, Xiaojuan
Jia, Jidong
author_facet Zhang, Wei
Wang, Xiaoming
Duan, Weijia
Xu, Anjian
Zhao, Xinyan
Huang, Jian
You, Hong
Brissot, Pierre
Ou, Xiaojuan
Jia, Jidong
author_sort Zhang, Wei
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7048005
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-70480052020-03-09 HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case Zhang, Wei Wang, Xiaoming Duan, Weijia Xu, Anjian Zhao, Xinyan Huang, Jian You, Hong Brissot, Pierre Ou, Xiaojuan Jia, Jidong Front Genet Genetics 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. Frontiers Media S.A. 2020-02-21 /pmc/articles/PMC7048005/ /pubmed/32153640 http://dx.doi.org/10.3389/fgene.2020.00077 Text en Copyright © 2020 Zhang, Wang, Duan, Xu, Zhao, Huang, You, Brissot, Ou and Jia http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Zhang, Wei
Wang, Xiaoming
Duan, Weijia
Xu, Anjian
Zhao, Xinyan
Huang, Jian
You, Hong
Brissot, Pierre
Ou, Xiaojuan
Jia, Jidong
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title_full HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title_fullStr HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title_full_unstemmed HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title_short HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
title_sort hfe-related hemochromatosis in a chinese patient: the first reported case
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048005/
https://www.ncbi.nlm.nih.gov/pubmed/32153640
http://dx.doi.org/10.3389/fgene.2020.00077
work_keys_str_mv AT zhangwei hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT wangxiaoming hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT duanweijia hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT xuanjian hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT zhaoxinyan hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT huangjian hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT youhong hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT brissotpierre hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT ouxiaojuan hferelatedhemochromatosisinachinesepatientthefirstreportedcase
AT jiajidong hferelatedhemochromatosisinachinesepatientthefirstreportedcase

Ejemplares similares