title: Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.
abstract: In the present paper, we describe an individual, found as part of a screening study, being homozygous for the C282Y mutation and at the same time heterozygous for the H63D mutation in the HFE gene. Identical results were obtained by three different methods, i.e., by PCR-RFLP, by sequencing, and by melting curve analysis. Thus, the common conception that the C282Y and the H63D mutations are mutually exclusive is not valid. Clinical symptoms and laboratory data on the individual were similar to hemochromatosis patients homozygous for the C282Y mutation. The implications of our finding for diagnostic analytical laboratory procedures are briefly discussed.
authors.affiliation: Department of Clinical Chemistry, Trondheim University Hospital, Norway. ketil.thorstensen@medisin.ntnu.no
authors.forename: K
authors.initials: K
authors.lastname: Thorstensen
authors.forename: A
authors.initials: A
authors.lastname: Asberg
authors.forename: M
authors.initials: M
authors.lastname: Kvitland
authors.forename: E
authors.initials: E
authors.lastname: Svaasand
authors.forename: K
authors.initials: K
authors.lastname: Hveem
authors.forename: K S
authors.initials: KS
authors.lastname: Bjerve
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins