title: Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype.
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.
authors.affiliation: The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
authors.forename: Jill
authors.initials: J
authors.lastname: Waalen
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D002097:C-Reactive Protein / Q000378:metabolism; D002908:Chronic Disease; D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007249:Inflammation / Q000097:blood*; D015850:Interleukin-6 / Q000097:blood; D007501:Iron / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D015850:Interleukin-6; D008565:Membrane Proteins; D002097:C-Reactive Protein; D007501:Iron