Article
[Should we support large-scale screening for genetic haemochromatosis in France?].
Bulletin de l'Academie nationale de medecine - 1 Jan 2004
Deugnier Yves, Le Gall Jean-Yves
Abstract excerpt
Genetic hemochromatosis meets the principal World Health Organization criteria for diseases warranting systematic population screening. Indeed, it is a frequent, late-onset, severe disease that is easy to diagnose and cure. However, its penetrance is much lower than thought prior to the discovery of the HFE1 gene, whose C282 Y mutation is responsible for more than 95% of cases with phenotypic expression....
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