title: Penetrance of hemochromatosis.
abstract: We undertook a three-year screening program for mutations of the HFE gene among 41,000 subjects attending the Kaiser Permanente Health Appraisal Center in San Diego, California. Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy. The very low clinical penetrance of the HFE mutations must be taken into account in calculating cost/benefit and risk/benefit ratios in screening for hemochromatosis.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.
authors.forename: Jill
authors.initials: J
authors.lastname: Waalen
authors.forename: Vincent
authors.initials: V
authors.lastname: Felitti
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
authors.forename: Ngoc J
authors.initials: NJ
authors.lastname: Ho
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
mesh_terms: D019943:Amino Acid Substitution; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D019683:Penetrance; D016133:Polymerase Chain Reaction
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins