Molecular pathogenesis of hereditary hemochromatosis
Jingqi Liu1*, Chunwen Pu2*, Lang Lang1, Liang Qiao3, Mohamud abukar Haji Abdullahi1 and Chunmeng Jiang1
1Department of Internal Medicine, the Second Hospital of Dalian Medical University, 2Dalian 6th People's Hospital, Liaoning Province, Dalian, China and 3Storr Liver Centre, Westmead Millennium Institute for Medical Research, The University of Sydney at Westmead Hospital, Westmead, Australia
*These authors contributed equally to this work
Offprint requests to: Chumeng Jiang, PhD, MD, Department of Internal Medicine, the Second Hospital of Dalian Medical University, 467 Zhongshan Road, Shahekou District, Dalian 116023, China. e-mail: 13940891419@163.com
Summary. 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.. Histol Histopathol 31, 833-840 (2016)
Key words: Hemochromatosis, Hepcidin, HFE, HJV FPN
DOI: 10.14670/HH-11-762