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Blood, 15 March 2004, Vol. 103, No. 6, pp. 2407-2409. Prepublished online as a Blood First Edition Paper on November 20, 2003; DOI 10.1182/blood-2003-10-3390. This Article Full Text (PDF) All Versions of this Article: 2003-10-3390v1 103/6/2407    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 Roetto, A. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Roetto, A. Articles by Camaschella, C. Social Bookmarking                   What's this? Submitted October 2, 2003 Accepted November 1, 2003 Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70r) Antonella Roetto, Filomena Daraio, Paolo Porporato, Roberta Caruso, Timothy M Cox, Mario Cazzola, Paolo Gasparini, Alberto Piperno, and Clara Camaschella* Dipartimento di Scienze Cliniche e Biologiche, University of Torino, Orbassano, Torino, Italy Divisione di Ematologia Ospedale Pediatrico Bambin Gesu, IRCCS, Rome, Italy Department of Medicine, University of Cambridge, Cambridge, United Kingdom Dipartimento di Medicina Interna e Oncologia,Policlinico San Matteo, IRCCS, Pavia, Italy Dipartimento di Patologia Generale, Genetica Medica, II University of Napoli and Tigem, Naples, Italy Clinica Medica, Azienda Ospedaliera San Gerardo, Milan, Italy * Corresponding author; email: clara.camaschella{at}unito.it. Juvenile or type 2 hemochromatosis (JH) is a genetic disease due to increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (HEPC). Hepcidin is an hepatic antimicrobial-like peptide whose role in iron homeostasis was first defined in animal models: deficiency of hepcidin in mice leads to iron overload, while its hepatic overexpression in transgenic animals causes iron deficiency. To define the prevalence of HEPC mutations in JH we screened for mutations HEPC gene in 21 unrelated JH subjects. We identified a new mutation (C70R), which affects one of the eight conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide. 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