Article
HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.
Hereditas - 6 Jun 2022
Barton James C, Barton J Clayborn, Acton Ronald T
Abstract excerpt
BACKGROUND: Human leukocyte antigen (HLA)-A*03, hemochromatosis ancestral haplotype marker, was associated with greater iron overload in hemochromatosis cohorts reported before discovery of the HFE gene. We sought to learn whether an A*03-linked locus influences phenotypes in referred HFE p.C282Y homozygotes. METHODS: We tabulated these phenotypes in probands with p.C282Y homozygosity: age, transferrin saturation...
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