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	Hisao Hayashi, Shinya Wakusawa, Satoshi Motonishi, Ken-ichi Miyamoto, Hidetoshi Okada, Yasutaka Inagaki, Takaaki Ikeda
Journal	Internal medicine (Tokyo, Japan) (Intern Med) Vol. 45 Issue 20 Pg. 1107-11 ( 2006) ISSN: 1349-7235 [Electronic] Japan
PMID	17106152 (Publication Type: Journal Article, Review)
Chemical References	Cation Transport Proteins GPI-Linked Proteins HFE protein, human HJV protein, human Hemochromatosis Protein Histocompatibility Antigens Class I Membrane Proteins Pregnancy Proteins Receptors, Transferrin TFR2 protein, human metal transporting protein 1 Ferritins FTH1 protein, human Oxidoreductases
Topics	Adult Aged Amino Acid Substitution Asian People (genetics) Cation Transport Proteins (genetics) Female Ferritins (genetics) GPI-Linked Proteins Genotype Hemochromatosis (epidemiology, ethnology, genetics) Hemochromatosis Protein Histocompatibility Antigens Class I (genetics) Humans Iron Overload (epidemiology, ethnology, genetics) Japan (epidemiology) Male Membrane Proteins (genetics) Middle Aged Mutation, Missense Oxidoreductases Phenotype Point Mutation Pregnancy Proteins (genetics) Receptors, Transferrin (genetics)

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