Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):326-7. doi: 10.1016/j.bcmd.2005.08.003. Epub 2005 Sep 9.

Abstract

The mechanism of excessive iron storage in patients with hereditary hemochromatosis caused by mutations of the HFE gene seems to be a failure to up-regulate hepcidin in the face of increased body iron. Since the cytokines IL-1 and IL-6 stimulate hepcidin transcription in the absence of HFE, chronic inflammatory states might counteract the effect of HFE mutations. We measured the pre-phlebotomy plasma levels of C reactive protein (CRP) and of interleukin 6 (IL-6) in homozygotes for the C282Y mutation of HFE. There was no difference in these levels in subjects with high iron stores than in those with low iron stores, suggesting that the phenotypic differences between such homozygotes is not appreciably affected by ongoing chronic inflammation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • C-Reactive Protein / metabolism
  • Chronic Disease
  • Female
  • Hemochromatosis / blood
  • Hemochromatosis / genetics*
  • Hemochromatosis / immunology*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Inflammation / blood*
  • Interleukin-6 / blood
  • Iron / metabolism
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Phenotype

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Interleukin-6
  • Membrane Proteins
  • C-Reactive Protein
  • Iron