A Japanese Family with Ferroportin Disease Caused by a Novel Mutation of SLC40A1 Gene: Hyperferritinemia Associated with a Relatively Low Transferrin Saturation of Iron

Chizu KOYAMA; Shinya WAKUSAWA; Hisao HAYASHI; Toshio UENO; Rie SUZUKI; Motoyoshi YANO; Hiroshi SAITO; Toru OKAZAKI

doi:10.2169/internalmedicine.44.990

CASE REPORTS

A Japanese Family with Ferroportin Disease Caused by a Novel Mutation of SLC40A1 Gene: Hyperferritinemia Associated with a Relatively Low Transferrin Saturation of Iron

Chizu KOYAMA, Shinya WAKUSAWA, Hisao HAYASHI, Toshio UENO, Rie SUZUKI, Motoyoshi YANO, Hiroshi SAITO, Toru OKAZAKI

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Keywords: hemochromatosis, reticuloendothelial

JOURNAL OPEN ACCESS

2005 Volume 44 Issue 9 Pages 990-993

DOI https://doi.org/10.2169/internalmedicine.44.990

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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.

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