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Title: A novel phenotype of a Hereditary hemochromatosis type 4 with ferroportin-1 mutation, presenting with juvenile cataracts
Authors: Yamakawa, Noriyuki
Oe, Kengo
Yukawa, Naoichiro
Murakami, Kosaku  kyouindb  KAKEN_id  orcid (unconfirmed)
Nakashima, Ran
Imura, Yoshitaka
Yoshifuji, Hajime  kyouindb  KAKEN_id  orcid (unconfirmed)
Ohmura, Koichiro  kyouindb  KAKEN_id
Miura, Yasuo  kyouindb  KAKEN_id
Tomosugi, Naohisa
Kawabata, Hiroshi
Takaori-Kondo, Akifumi
Mimori, Tsuneyo
Author's alias: 湯川, 尚一郎
井村, 嘉孝
吉藤, 元
大村, 浩一郎
川端, 浩
三森, 経世
Keywords: hereditary hemochromatosis type 4
juvenile cataracts
hereditary hyperferritinemia cataract syndrome
Issue Date: 2016
Publisher: Japanese Society of Internal Medicine
Journal title: Internal Medicine
Volume: 55
Issue: 18
Start page: 2697
End page: 2701
Abstract: 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.
Rights: © 2016 The Japanese Society of Internal Medicine.
The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (
DOI(Published Version): 10.2169/internalmedicine.55.6565
Appears in Collections:Journal Articles

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