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Blood, 1 June 2004, Vol. 103, No. 11, pp. 4317-4321. Prepublished online as a Blood First Edition Paper on February 24, 2004; DOI 10.1182/blood-2004-01-0192. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-01-0192v1 103/11/4317    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Lanzara, C. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Lanzara, C. Articles by Camaschella, C. Related Collections Red Cells Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis Carmela Lanzara, Antonella Roetto, Filomena Daraio, Silvain Rivard, Romina Ficarella, Hervey Simard, Timothy M. Cox, Mario Cazzola, Alberto Piperno, Anne-Paule Gimenez-Roqueplo, Paola Grammatico, Stefano Volinia, Paolo Gasparini, and Clara Camaschella From the Genetica Medica, Dipartimento di Patologia Generale, II Università di Napoli, Napoli, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Napoli, Italy; Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera San Luigi, Orbassano, Torino, Italy; Sagen Pharma, Ville de Saguenay, Quebec, Canada; Department of Medicine, University of Cambridge, Cambridge, United Kingdom; Dipartimento di Medicina Interna e Oncologia, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy; Clinica Medica, Azienda Ospedaliera San Gerardo, Monza, Italy; Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, Paris, France; Genetica Medica, Dipartimento di Medicina Sperimentale e Patologia. Università La Sapienza, AO San Camillo Forlanini, Roma, Italy; Laboratorio di Genomica Funzionale, Dipartimento di Morfologia ed Embriologia Universita' degli Studi, Ferrara, Italy. Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expression identical to the 1q-linked form, is due to inactivation of hepcidin, the key regulator of iron homeostasis. Here we report the spectrum of mutations of the hemojuvelin gene (HJV) in 34 patients who did not show hepcidin mutations. This represents the largest cohort of patients with JH collected worldwide. We identified 17 different (16 novel) mutations of HJV, both at the homozygous and at the compound heterozygous state. Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function. (Blood. 2004;103:4317-4321) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Y. Lok, A. T. Merryweather-Clarke, V. Viprakasit, Y. Chinthammitr, S. Srichairatanakool, C. Limwongse, D. Oleesky, A. J. Robins, J. Hudson, P. Wai, et al. Iron overload in the Asian community Blood, July 2, 2009; 114(1): 20 - 25. [Abstract] [Full Text] [PDF] Y. Nagayoshi, M. Nakayama, S. Suzuki, J. Hokamaki, H. Shimomura, K. Tsujita, M. Fukuda, T. Yamashita, Y. Nakamura, S. Sugiyama, et al. A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis Eur J Heart Fail, October 1, 2008; 10(10): 1001 - 1006. [Abstract] [Full Text] [PDF] L. Silvestri, A. Pagani, and C. Camaschella Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis Blood, January 15, 2008; 111(2): 924 - 931. [Abstract] [Full Text] [PDF] L. Silvestri, A. Pagani, C. Fazi, G. Gerardi, S. Levi, P. Arosio, and C. Camaschella Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis Blood, May 15, 2007; 109(10): 4503 - 4510. [Abstract] [Full Text] [PDF] P. Aguilar-Martinez, C. Y. Lok, S. Cunat, E. Cadet, K. Robson, and J. Rochette Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl Haematologica, March 1, 2007; 92(3): 421 - 422. [Abstract] [Full Text] [PDF] A. Rideau, B. Mangeat, T. Matthes, D. Trono, and P. 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