Article
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
Internal medicine (Tokyo, Japan) - 1 Jan 2000
Yamakawa Noriyuki, Oe Kengo, Yukawa Naoichiro, Murakami Kosaku, Nakashima Ran, Imura Yoshitaka, Yoshifuji Hajime, Ohmura Koichiro, Miura Yasuo, Tomosugi Naohisa, Kawabata Hiroshi, Takaori-Kondo Akifumi, Mimori Tsuneyo
Abstract excerpt
Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia who was diagnosed with type 4 HH. He was heterozygous for the 1520A>G (His507Arg) mutation in the ferroportin-1 gene (SLC40A1)....
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