title: Genetic background of primary iron overload syndromes in Japan.
abstract: The different prevalences of iron overload syndromes between Caucasians and Asians may be accounted for by the differences in genetic background. The major mutation of hemochromatosis in Celtic ancestry, C282Y of HFE, was reported in a Japanese patient. Five patients of 3 families with the hepatic transferrin receptor gene (TFR2)-linked hemochromatosis were found in different areas of Japan, suggesting that TFR2 is a major gene in Japanese people. Three patients with mutations in the hemojuvelin gene, HJV, showed also middle-age-onset hemochromatosis. A heterozygous mutation in the H ferritin gene, FTH1, was found in a family of 3 affected patients. Another autosomal dominant SLC40A1-linked hyperferritinemia (ferroportin disease) was found in 3 patients of 2 families. Two patients with hemochromatosis were free from any mutations in the genes investigated. In conclusion, the genetic backgrounds of Japanese patients with primary iron overload syndromes were partially clarified, showing some phenotype-genotype correlations.
authors.affiliation: Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya.
authors.forename: Hisao
authors.initials: H
authors.lastname: Hayashi
authors.forename: Shinya
authors.initials: S
authors.lastname: Wakusawa
authors.forename: Satoshi
authors.initials: S
authors.lastname: Motonishi
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Miyamoto
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Okada
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Inagaki
authors.forename: Takaaki
authors.initials: T
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000235:genetics; D058851:GPI-Linked Proteins; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D010088:Oxidoreductases; D010641:Phenotype; D017354:Point Mutation; D011257:Pregnancy Proteins / Q000235:genetics; D011990:Receptors, Transferrin / Q000235:genetics; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D058851:GPI-Linked Proteins; C103673:HFE protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011257:Pregnancy Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin; D005293:Ferritins; C454461:FTH1 protein, human; D010088:Oxidoreductases