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

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...

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Bibliographic Details
Published in:Blood cells, molecules, & diseases molecules, & diseases, 2005-11, Vol.35 (3), p.326-327
Main Authors: Beutler, Ernest, Waalen, Jill, Gelbart, Terri
Format: Article
Language:English
Subjects:
C-Reactive Protein - metabolism
Chronic Disease
CRP
Female
Ferritin
Hemochromatosis - blood
Hemochromatosis - genetics
Hemochromatosis - immunology
Hemochromatosis Protein
Hepcidin
Histocompatibility Antigens Class I - genetics
Homozygote
Humans
IL-6
Inflammation - blood
Interleukin-6 - blood
Iron
Iron - metabolism
Male
Membrane Proteins - genetics
Mutation
Phenotype
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Summary: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.
ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2005.08.003