[Idiopathic hemochromatosis. Immunogenetics and diagnosis. Prevention by HLA genotypes].
Idiopathic hemochromatosis is an hereditary iron overload. The study of HLA types demonstrated clearly the linkage with HLA system. The preferential correlation established with A3 (72%) but other alleles were linked: B7, B14. HLA alleles were only the markers of hemochromatosis allele (H) and were not implicated in other iron overload. Family studied, defined two linked haplotypes: A3, Cw7, B7, Bw6, BfS, DR2, GLO1 et A3, Cw8, B14, Cw6, BfF, DRw6, GLO2. Demonstration of the recessive mode of inheritance was established by family studies. The affected siblings had the same HLA haplotype that the proband and homozygous or heterozygous expressed state was assessed in siblings. The HLA family types allowed to detect in 147 families 88 potential diseased patients among of them 73% had early blood-drawing.
D000483:Alleles; D002874:Chromosome Mapping; D005260:Female; D005602:France; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D010641:Phenotype
D006680:HLA Antigens
Hémochromatose idiopathique. Immunogénétique et diagnostic. Prévention par les génotypes HLA.