Molecular pathogenesis of hereditary hemochromatosis

Histol Histopathol. 2016 Aug;31(8):833-40. doi: 10.14670/HH-11-762. Epub 2016 Mar 31.

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.

Publication types

  • Review

MeSH terms

  • Cation Transport Proteins / genetics
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein / genetics
  • Hepcidins / genetics
  • Humans
  • Receptors, Transferrin / genetics

Substances

  • Cation Transport Proteins
  • HFE protein, human
  • Hemochromatosis Protein
  • Hepcidins
  • Receptors, Transferrin
  • TFR2 protein, human
  • metal transporting protein 1