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.

journal_name

Histol Histopathol

authors

Liu J,Pu C,Lang L,Qiao L,Abdullahi MA,Jiang C

doi

10.14670/HH-11-762

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

833-40

issue

8

eissn

0213-3911

issn

1699-5848

pii

HH-11-762

journal_volume

31

pub_type

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