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...

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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
Descripción
Sumario: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.

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