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Facteurs acquis et génétiques de modulation de la pénétrance de l'hémochromatose HFE [Acquired and genetic factors influencing the penetrance of HFE haemochromatosis]

Abstract : C282Y homozygosity is necessary (but insufficient in isolation) for the onset of hemochromatosis, as indicated by its low biochemical penetrance (75 % in men and 50 % in women) and clinical penetrance (25 % in men and 0 % in women). Factors modulating iron load may be acquired (diet, alcohol, metabolic syndrome, drugs, etc.) or, more importantly, genetic (digenism, polymorphism of genes involved in the regulation of hepcidin synthesis). Factors modulating iron-related organ damage include alcohol consumption, the metabolic syndrome, and the TGF-beta1 (hepatic fibrosis) and superoxide dismutase genes (cardiomyopathy). Further studies of these modifiers are needed to improve the management of C282Y homozygotes, at both the individual and the population levels.
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https://www.hal.inserm.fr/inserm-00372137
Contributor : Hervé de Villemeur <>
Submitted on : Tuesday, March 31, 2009 - 1:22:39 PM
Last modification on : Wednesday, September 16, 2020 - 4:54:58 PM

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  • HAL Id : inserm-00372137, version 1
  • PUBMED : 19238778

Citation

Yves Deugnier, Catherine Bourgain, Jean Mosser. Facteurs acquis et génétiques de modulation de la pénétrance de l'hémochromatose HFE [Acquired and genetic factors influencing the penetrance of HFE haemochromatosis]. Bulletin de l'Académie Nationale de Médecine, Elsevier Masson, 2008, 192 (5), pp.873-81; discussion 881. ⟨inserm-00372137⟩

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