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Blood, 15 February 2005, Vol. 105, No. 4, pp. 1803-1806. Prepublished online as a Blood First Edition Paper on October 14, 2004; DOI 10.1182/blood-2004-08-3042. This Article Full Text (PDF) All Versions of this Article: 2004-08-3042v1 105/4/1803    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Nemeth, E. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Nemeth, E. Articles by Camaschella, C. Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted August 5, 2004 Accepted October 13, 2004 Hepcidin is decreased in TFR2-Hemochromatosis Elizabeta Nemeth, Antonella Roetto, Giovanni Garozzo, Tomas Ganz, and Clara Camaschella* Department of Medicine, David Geffen School of Medicine, University of California (UCLA), Los Angeles, California, USA Department of Clinical and Biological Sciences, University of Turin, Orbassano, Turin, Italy Servizio di Immunoematologia e Medicina Trasfusionale, Civile-Maria Paterno Arezzo Hospital, Ragusa, Italy * Corresponding author; email: clara.camaschella{at}unito.it. The hepatic antimicrobial peptide hepcidin is the key regulator of iron metabolism in mammals. Recent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin deficiency. Juvenile hemochromatosis is associated with hepcidin or hemojuvelin mutations and these patients have low or absent urinary hepcidin levels. Patients with C282Y HFE hemochromatosis also have hepcidin levels inappropriate to the degree of iron loading. The relationship between the hemochromatosis due to TFR2 mutations and hepcidin was unknown. We measured urinary hepcidin levels in 10 patients homozygous for different TFR2 mutations, all with increased transferrin saturation. Urinary hepcidin was low or undetectable in 8/10 cases, irrespective of previous phlebotomy treatments or serum ferritin levels. The only 2 cases with normal hepcidin values had concomitant inflammatory conditions. Our data indicate that TFR2 is a modulator of hepcidin production in response to iron. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Iron is still hot: hepcidin keeps it ablaze Prem Ponka Blood 2005 105: 1376-1377. 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