A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.
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.
Koyama
Chizu
C
Department of Medicine, Faculty of Pharmaceutical Sciences of Hokuriku University, Kanazawa, Japan.
Wakusawa
Shinya
S
Hayashi
Hisao
H
Ueno
Toshio
T
Suzuki
Rie
R
Yano
Motoyoshi
M
Saito
Hiroshi
H
Okazaki
Toru
T
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
D027682:Cation Transport Proteins; D014168:Transferrin; D000098742:Ferroportin; D004247:DNA; D005293:Ferritins; D007501:Iron