HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
Wei Zhang, Xiaomin Wang, Weijia Duan, Anjian Xu, Xinyan Zhao, Jian Huang, Hong You, Pierre Brissot, Xiaojuan Ou, Jidong Jia
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, HFE p.C282Y mutation 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.
Topics & Concepts
HemochromatosisHereditary hemochromatosisCompound heterozygosityGeneticsMedicineLoss of heterozygosityMutationDiseaseAlleleInternal medicineBiologyGeneIron Metabolism and DisordersTrace Elements in HealthHemoglobinopathies and Related Disorders