Article
Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.
Orphanet journal of rare diseases - 6 Jun 2022
Zhang Wei, Li Yanmeng, Xu Anjian, Ouyang Qin, Wu Liyan, Zhou Donghu, Wu Lina, Zhang Bei, Zhao Xinyan, Wang Yu, Wang Xiaoming, Duan Weijia, Wang Qianyi, You Hong, Huang Jian, Ou Xiaojuan, Jia Jidong
Abstract excerpt
BACKGROUNDS: Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is still a relatively high proportion of cases with primary iron overload from unexplained causes. We aimed to explore novel non-HFE mutations in Chinese patients with primary iron overload....
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