Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

Journal Article

Hereditary hemochromatosis (HH) type I is a disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, its penetrance seems very low. The goal of our study was to determine whether hepcidin, a recently identified iron-regulatory peptide, could be a genetic modifier contributing to the HH phenotype. In mice, deficiency of either HFE (Hfe(-/-)) or hepcidin (Usf2(-/-)) is associated with the same pattern of iron overload observed in patients with HH. We intercrossed Hfe(-/-) and Usf2(+/-) mice and asked whether hepcidin deficiency increased the iron burden in Hfe(-/-) mice. Our results showed that, indeed, liver iron accumulation was greater in the Hfe(-/-)Usf2(+/-) mice than in mice lacking Hfe alone. This result, in agreement with recent findings in humans, provides a genetic explanation for some variability of the HH phenotype.

Full Text

Duke Authors

Cited Authors

  • Nicolas, G; Andrews, NC; Kahn, A; Vaulont, S

Published Date

  • April 1, 2004

Published In

Volume / Issue

  • 103 / 7

Start / End Page

  • 2841 - 2843

PubMed ID

  • 14656876

Pubmed Central ID

  • 14656876

International Standard Serial Number (ISSN)

  • 0006-4971

Digital Object Identifier (DOI)

  • 10.1182/blood-2003-09-3358


  • eng

Conference Location

  • United States