title: Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.
abstract: Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C282Y, whereas four of the heterozygote patients also carried the H63D mutation. Among the control group, 9.6% were heterozygotes for C282Y. 2/157 subjects were homozygous, 37/157 were heterozygous for the H63D mutation, but showed no signs of iron overload.
authors.affiliation: Abteilung für Medizinische Biochemie, Universitätskrankenhaus Eppendorf, Hamburg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Nielsen
authors.forename: S
authors.initials: S
authors.lastname: Carpinteiro
authors.forename: R
authors.initials: R
authors.lastname: Fischer
authors.forename: J M
authors.initials: JM
authors.lastname: Cabeda
authors.forename: G
authors.initials: G
authors.lastname: Porto
authors.forename: E E
authors.initials: EE
authors.lastname: Gabbe
mesh_terms: D000328:Adult; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005858:Germany / Q000453:epidemiology; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015995:Prevalence
chemical_list: D007501:Iron