Publication: Molecular pathogenesis of hereditary hemochromatosis
Authors
Liu, Jingqi ; Pu, Chunwen ; Lang, Lang ; Qiao, Liang ; Abdullahi, Mohamud Abukar Haji ; Jiang, Chunmeng
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Publisher
Universidad de Murcia. Departamento de BiologĂa Celular e HistologĂa
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DOI
DOI: 10.14670/HH-11-762
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info:eu-repo/semantics/article
Description
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.
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Citation
Histology and Histopathology, Vol.31, nÂş8, (2016)
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