title: Molecular pathogenesis of hereditary hemochromatosis.
abstract: 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.
authors.affiliation: Department of Internal Medicine, the Second Hospital of Dalian Medical University, Shahekou District, Dalian City, Liaoning Province, China.
authors.forename: Jingqi
authors.initials: J
authors.lastname: Liu
authors.affiliation: Dalian 6th People's Hospital, Dalian City, Liaoning Province, China.
authors.forename: Chunwen
authors.initials: C
authors.lastname: Pu
authors.affiliation: Department of Internal Medicine, the Second Hospital of Dalian Medical University, Shahekou District, Dalian City, Liaoning Province, China.
authors.forename: Lang
authors.initials: L
authors.lastname: Lang
authors.affiliation: Storr Liver Centre, Westmead Millennium Institute for Medical Research, The University of Sydney at Westmead Hospital, Westmead, NSW, Australia.
authors.forename: Liang
authors.initials: L
authors.lastname: Qiao
authors.affiliation: Department of Internal Medicine, the Second Hospital of Dalian Medical University, Shahekou District, Dalian City, Liaoning Province, China.
authors.forename: Mohanud Abukar Haji
authors.initials: MA
authors.lastname: Abdullahi
authors.affiliation: Department of Internal Medicine, the Second Hospital of Dalian Medical University, Shahekou District, Dalian City, Liaoning Province, China. 13940891419@163.com.
authors.forename: Chunmeng
authors.initials: C
authors.lastname: Jiang
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein / Q000235:genetics; D064451:Hepcidins / Q000235:genetics; D006801:Humans; D011990:Receptors, Transferrin / Q000235:genetics; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin