A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts

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 diagn...

Full description

Saved in:
Bibliographic Details
Published in:Internal Medicine 2016/09/15, Vol.55(18), pp.2697-2701
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
Cataract - genetics
Cation Transport Proteins - deficiency
Cation Transport Proteins - genetics
ferroportin
Hemochromatosis - genetics
hereditary hemochromatosis type 4
hereditary hyperferritinemia cataract syndrome
Humans
Japan
juvenile cataracts
Male
Mutation
Phenotype
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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). He had a familial cataract as an infant, but hereditary hyperferritinemia cataract syndrome was excluded. This is the first report of type 4 HH with juvenile cataracts and suggests that there is an association between hyperferritinemia and early cataract formation.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.55.6565