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- Title
Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.
- Authors
Kaneko, Yoshibumi; Miyajima, Hiroaki; Piperno, Alberto; Tomosugi, Naohisa; Hayashi, Hisao; Morotomi, Natsuko; Tsuchida, Ken-ichi; Ikeda, Takaaki; Ishikawa, Akihisa; Ota, Yusuke; Wakusawa, Shinya; Yoshioka, Kentaro; Kono, Satoshi; Pelucchi, Sara; Hattori, Ai; Tatsumi, Yasuaki; Okada, Toshihide; Yamagishi, Masakazu
- 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.
- Subjects
HEMOCHROMATOSIS diagnosis; CERULOPLASMIN; LIQUID chromatography; TANDEM mass spectrometry; PEPTIDE hormones; PHENOTYPES; JAPANESE people
- Publication
Journal of Gastroenterology, 2010, Vol 45, Issue 11, p1163
- ISSN
0944-1174
- Publication type
Article
- DOI
10.1007/s00535-010-0259-8