title: [Long-term survival of 2 cases of hemochromatosis respectively homozygous for His63Asp and Cys282Tyr mutations].
abstract: A 45-year-old Greek patient was found to have a moderate iron overload (ferritin 1213 micrograms/l, serum iron 21.5 mumol/l, transferrin saturation 40%). He underwent 12 phlebotomies of 450 cc over an 8-year period and ferritin was normalized (267 micrograms/l) after the seventh. Study of the HLA-H gene in leukocyte DNA showed that the patient is homozygous for the His63Asp mutation while no modification was found at position 282. This case is compared with that of a 50-year-old Swiss male presenting a severe iron overload (ferritin 7660 micrograms/l, serum iron 36.5 mumol/l, transferrin saturation 97%). Although this patient has undergone 77 phlebotomies (450 cc each time) over a 2-year period, he continues to have a high ferritin level (2200 micrograms/l). HLA-H gene analysis showed the absence of codon 63 mutation and the presence of Cys282Tyr mutation in the homozygous state. The study of these two cases indicates that penetrance of the His63Asp mutation in the homozygous state is very low as compared to Cys282Tyr and results in moderate iron accumulation, probably without organ damage. This genotype must be looked for whenever moderate iron overload is present.
authors.affiliation: Département de médecine interne, Hôpitaux universitaires de Genève.
authors.forename: K
authors.initials: K
authors.lastname: Samii
authors.forename: R
authors.initials: R
authors.lastname: Darbellay
authors.forename: H
authors.initials: H
authors.lastname: Trachsel
authors.forename: P
authors.initials: P
authors.lastname: Beris
mesh_terms: D004252:DNA Mutational Analysis; D005293:Ferritins / Q000378:metabolism; D015234:HLA-A Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D018962:Phlebotomy
chemical_list: D015234:HLA-A Antigens; D005293:Ferritins; D007501:Iron