title: A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.
abstract: We report a new mutation, Asn185Asp, in exon 6 of the ferroportin gene (FPN1) in 15 members of three successive generations of a Canadian family of Scandinavian origin with autosomal dominant hemochromatosis. Hyperferritinemia with low transferrin saturation was noted in younger family members, seven of whom were aged 20 years or less at the time of diagnosis. In those individuals first diagnosed with hemochromatosis in later life, marked hyperferritinemia was accompanied by high transferrin saturation. In contrast to the phenotype of high ferritin with low saturation first reported for ferroportin disease, this family demonstrates a phenotype of iron indices that varies with age.
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, 4480 Oak Street, Vancouver, Canada BC V6H3V4.
authors.forename: Tara J
authors.initials: TJ
authors.lastname: Morris
authors.forename: Mariya M
authors.initials: MM
authors.lastname: Litvinova
authors.forename: Diana
authors.initials: D
authors.lastname: Ralston
authors.forename: Andre
authors.initials: A
authors.lastname: Mattman
authors.forename: Daniel
authors.initials: D
authors.lastname: Holmes
authors.forename: Gillian
authors.initials: G
authors.lastname: Lockitch
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002170:Canada; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin