海西定
汉普
铁转运蛋白
血色病
遗传性血色病
发病机制
内分泌学
内科学
生物
医学
贫血
作者
Jingqi Liu,Chunwen Pu,Lang Lang,Liang Qiao,Mohamud Abukar Haji Abdullahi,Chunmeng Jiang
出处
期刊:PubMed
日期:2016-08-01
卷期号:31 (8): 833-40
被引量:3
摘要
Hereditary hemochromatosis (HH) is an inherited iron overload disorder characterized by normal iron-driven erythropoiesis and abnormal iron metabolism, leading to excess iron deposited in parenchymal cells of liver, heart, and endocrine glands. Iron hormone, hepcidin, plays a critical role in iron homeostasis through interaction with ferroportin (FPN), a major cellular iron exporter. Hepcidin is encoded by hepcidin antimicrobial peptide (HAMP). Mutations in hepcidin and any genes that regulate the biology of hepcidin, including hemochromatosis genes (HFE), Hemojuvelin (HJV), transferring receptor 2 (TFR2) and FPN, result in hemochromatosis. The identification of hepcidin and its role will provide a better understanding for pathogenesis of HH.
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