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Journal of Gastroenterology
Published in: Journal of Gastroenterology 11/2010

01-11-2010 | Original Article—Liver, Pancreas, and Biliary Tract

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

Authors: Yoshibumi Kaneko, Hiroaki Miyajima, Alberto Piperno, Naohisa Tomosugi, Hisao Hayashi, Natsuko Morotomi, Ken-ichi Tsuchida, Takaaki Ikeda, Akihisa Ishikawa, Yusuke Ota, Shinya Wakusawa, Kentaro Yoshioka, Satoshi Kono, Sara Pelucchi, Ai Hattori, Yasuaki Tatsumi, Toshihide Okada, Masakazu Yamagishi

Published in: Journal of Gastroenterology | Issue 11/2010

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Abstract

Background

Iron overload syndromes include a wide spectrum of genetic and acquired conditions. Recent studies suggest suppressed hepcidin synthesis in the liver to be the molecular basis of hemochromatosis. However, a liver with acquired iron overload synthesizes an adequate amount of hepcidin. Thus, hepcidin could function as a biochemical marker for differential diagnosis of iron overload syndromes.

Methods

We measured serum iron parameters and hepcidin-25 levels followed by sequencing HFE, HJV, HAMP, TFR2, and SLC40A1 genes in 13 Japanese patients with iron overload syndromes. In addition, we performed direct measurement of serum hepcidin-25 levels using liquid chromatography–tandem mass spectrometry in 3 Japanese patients with aceruloplasminemia and 4 Italians with HFE hemochromatosis.

Results

One patient with HJV hemochromatosis, 2 with TFR2 hemochromatosis, and 3 with ferroportin disease were found among the 13 Japanese patients. The remaining 7 Japanese patients showed no evidence for genetic basis of iron overload syndrome. As far as the serum hepcidin-25 was concerned, seven patients with hemochromatosis and 3 with aceruloplasminemia showed markedly decreased serum hepcidin-25 levels. In contrast, 3 patients with ferroportin disease and 7 with secondary iron overload syndromes showed serum hepcidin levels parallel to their hyperferritinemia. Patients with iron overload syndromes were divided into 2 phenotypes presenting as low and high hepcidinemia. These were then associated with their genotypes.

Conclusion

Determining serum hepcidin-25 levels may aid differential diagnosis of iron overload syndromes prior to genetic analysis.
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Metadata
Title
Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders
Authors
Yoshibumi Kaneko
Hiroaki Miyajima
Alberto Piperno
Naohisa Tomosugi
Hisao Hayashi
Natsuko Morotomi
Ken-ichi Tsuchida
Takaaki Ikeda
Akihisa Ishikawa
Yusuke Ota
Shinya Wakusawa
Kentaro Yoshioka
Satoshi Kono
Sara Pelucchi
Ai Hattori
Yasuaki Tatsumi
Toshihide Okada
Masakazu Yamagishi
Publication date
01-11-2010
Publisher
Springer Japan
Published in
Journal of Gastroenterology / Issue 11/2010
Print ISSN: 0944-1174
Electronic ISSN: 1435-5922
DOI
https://doi.org/10.1007/s00535-010-0259-8

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