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.