Hemochromatosis with Mutation of the Ferroportin 1 (IREG1) Gene

Weidong LIU; Souji SHIMOMURA; Hiroyasu IMANISHI; Yuna IWAMOTO; Naoto IKEDA; Masaki SAITO; Masao OHNO; Naoki HARA; Tetsuo YAMAMOTO; Hideji NAKAMURA; Toshikazu HADA

doi:10.2169/internalmedicine.44.285

CASE REPORTS

Hemochromatosis with Mutation of the Ferroportin 1 (IREG1) Gene

Weidong LIU, Souji SHIMOMURA, Hiroyasu IMANISHI, Yuna IWAMOTO, Naoto IKEDA, Masaki SAITO, Masao OHNO, Naoki HARA, Tetsuo YAMAMOTO, Hideji NAKAMURA, Toshikazu HADA

Author information

Weidong LIU
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Souji SHIMOMURA
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Hiroyasu IMANISHI
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Yuna IWAMOTO
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Naoto IKEDA
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Masaki SAITO
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Masao OHNO
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Naoki HARA
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Tetsuo YAMAMOTO
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Hideji NAKAMURA
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya
Toshikazu HADA
Division of Hepatobiliary and Pancreatic Disease, the Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya

Keywords: hemochromatosis, ferroportin 1, iron responsive element, siderosis, point mutation

JOURNAL OPEN ACCESS

2005 Volume 44 Issue 4 Pages 285-289

DOI https://doi.org/10.2169/internalmedicine.44.285

Details

Abstract

The HFE, H ferritin, TFR2, and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced. A novel mutation in the ferroportin 1 was found in the patient. It was located in the noncoding region of the ferroportin 1; nucleotide 117 adenine was changed to guanine, 7 nucleotides downstream the iron responsive element (IRE) region. This mutation was not found in the patient's son or daughter, or in 50 healthy individuals. It was suggested that the mutation in the ferroportin 1 may be related to hemochromatosis of this patient.

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