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  • Title: Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families.
    Author: Mercier G, Burckel A, Bathelier C, Boillat E, Lucotte G.
    Journal: Genet Couns; 1998; 9(3):181-6. PubMed ID: 9777338.
    Abstract:
    Mutation analysis of the HLA-H gene in French hemochromatosis patients and genetic counseling in families: Genotype analysis of 61 hemochromatosis patients living in France and 126 controls confirms that the disease is strongly associated with homozygosity for the mutation C282Y of the HLA-H gene: in our sample 67.2% patients, and none of the controls, carry two copies of the C282Y mutation; the frequency of the C282Y allele in a control population is 3.97%. A second variant (H63D) at the HLA-H gene is somehow more enriched (8.2%) in patient chromosomes that do not carry the C282Y mutation. The C282Y mutation was used in 10 hemochromatosis families for genetic counseling.
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