title: A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.
abstract: Ferroportin disease, autosomal-dominant reticuloendothelial iron overload, may be more prevalent than hemochromatosis in Japan. Hyperferritinemia of 822 ng/ml with 24.8% transferrin saturation of iron was incidentally noted in a 43-year-old man. His iron overload was selective in Kupffer cells of the liver. Subsequently, his father was found to have asymptomatic hyperferritinemia of 2,283 ng/ml with 62.1% saturation. These affected subjects were heterozygous for 1467A>C (R489S) in SLC40A1, and without other mutations of the hemochromatosis genes. Here, we report a Japanese family with ferroportin disease, characterized by hyperferritinemia with relatively low transferrin saturations of iron.
authors.affiliation: Department of Medicine, Faculty of Pharmaceutical Sciences of Hokuriku University, Kanazawa, Japan.
authors.forename: Chizu
authors.initials: C
authors.lastname: Koyama
authors.forename: Shinya
authors.initials: S
authors.lastname: Wakusawa
authors.forename: Hisao
authors.initials: H
authors.lastname: Hayashi
authors.forename: Toshio
authors.initials: T
authors.lastname: Ueno
authors.forename: Rie
authors.initials: R
authors.lastname: Suzuki
authors.forename: Motoyoshi
authors.initials: M
authors.lastname: Yano
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Saito
authors.forename: Toru
authors.initials: T
authors.lastname: Okazaki
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000097:blood*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000097:blood*; D019190:Iron Overload / Q000097:blood* / Q000235:genetics* / Q000473:pathology; D007564:Japan; D007728:Kupffer Cells / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D014168:Transferrin / Q000378:metabolism*; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D014168:Transferrin; D000098742:Ferroportin; D004247:DNA; D005293:Ferritins; D007501:Iron