A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D.
We describe a woman, found as part of a screening study on cases of elevated transferrin saturation values in France, who was heterozygous for the C282Y mutation and at the same time homozygous for the H63D mutation in the HFE gene. Our description includes two other recently described patients presenting the symmetrical genotypic statement (homozygous for the C282Y mutation and heterozygous for the H63D mutation). The C282Y and H63D mutations in the "cis" phase may thus account for some very rare cases.
Lucotte
G
G
Center of Molecular Neurogenetics, Paris, France. Lucotte@hotmail.com
Champenois
T
T
Sémonin
O
O
D000328:Adult; D015342:DNA Probes; D005260:Female; D005602:France; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D014168:Transferrin / Q000378:metabolism
D015342:DNA Probes; D014168:Transferrin