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This Article Full Text Full Text (PDF) Supplemental PDF 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 Wallace, D. F. Articles by Subramaniam, V. N. Search for Related Content PubMed PubMed Citation Articles by Wallace, D. F. Articles by Subramaniam, V. N. Related Collections Red Cells Brief Reports Clinical Trials and Observations Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 July 2002, Vol. 100, No. 2, pp. 692-694 BRIEF REPORT Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis Daniel F. Wallace, Palle Pedersen, Jeannette L. Dixon, Peter Stephenson, Jeffrey W. Searle, Lawrie W. Powell, and V. Nathan Subramaniam From the Queensland Institute of Medical Research, the Digestive Health Clinics, and the Department of Pathology, Royal Brisbane Hospital; the Departments of Biochemistry and Medicine, University of Queensland, Brisbane, Australia; and the Department of Clinical Biochemistry, Hospital of Naestved, Denmark. Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in the ferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Letter in Blood Online: A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4? Antonella Roetto, Alison T. Merryweather-Clarke, Filomena Daraio, Karen Livesey, Jennifer J. Pointon, Giuliana Barbabietola, Antonio Piga, Peter H. Mackie, Kathryn J. H. Robson, and Clara Camaschella Blood 2002 100: 733-734. [Full Text] [PDF] This article has been cited by other articles: J. Chen and C. A. Enns The Cytoplasmic Domain of Transferrin Receptor 2 Dictates Its Stability and Response to Holo-transferrin in Hep3B Cells J. Biol. Chem., March 2, 2007; 282(9): 6201 - 6209. [Abstract] [Full Text] [PDF] D. W. Swinkels, M. C.H. Janssen, J. Bergmans, and J. J.M. Marx Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches Clin. Chem., June 1, 2006; 52(6): 950 - 968. [Abstract] [Full Text] [PDF] M. Khare, A. H. Taylor, J. C. Konje, and S. C. Bell {Delta}9-Tetrahydrocannabinol inhibits cytotrophoblast cell proliferation and modulates gene transcription Mol. Hum. Reprod., May 1, 2006; 12(5): 321 - 333. [Abstract] [Full Text] [PDF] I. Kasvosve, Z. A. Gomo, K. J Nathoo, P. Matibe, B. Mudenge, M. Loyevsky, and V. R Gordeuk Effect of ferroportin Q248H polymorphism on iron status in African children Am. J. Clinical Nutrition, November 1, 2005; 82(5): 1102 - 1106. 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In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations Blood, May 15, 2005; 105(10): 4096 - 4102. [Abstract] [Full Text] [PDF] D F Wallace, P Browett, P Wong, H Kua, R Ameratunga, and V N Subramaniam Identification of ferroportin disease in the Indian subcontinent Gut, April 1, 2005; 54(4): 567 - 568. [Full Text] [PDF] M. B. Johnson and C. A. Enns Diferric transferrin regulates transferrin receptor 2 protein stability Blood, December 15, 2004; 104(13): 4287 - 4293. [Abstract] [Full Text] [PDF] K J H Robson, A T Merryweather-Clarke, E Cadet, V Viprakasit, M G Zaahl, J J Pointon, D J Weatherall, and J Rochette Recent advances in understanding haemochromatosis: a transition state J. Med. Genet., October 1, 2004; 41(10): 721 - 730. [Abstract] [Full Text] [PDF] G. Hetet, I. Devaux, N. Soufir, B. Grandchamp, and C. Beaumont Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations Blood, September 1, 2003; 102(5): 1904 - 1910. [Abstract] [Full Text] [PDF] K E Arden, D F Wallace, J L Dixon, L Summerville, J W Searle, G J Anderson, G A Ramm, L W Powell, and V N Subramaniam A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient Gut, August 1, 2003; 52(8): 1215 - 1217. [Abstract] [Full Text] [PDF] T. Ganz Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation Blood, August 1, 2003; 102(3): 783 - 788. [Abstract] [Full Text] [PDF] A J Wigg, H Harley, and G Casey Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation Gut, March 1, 2003; 52(3): 433 - 435. [Abstract] [Full Text] [PDF] A. Roetto, A. T. Merryweather-Clarke, F. Daraio, K. Livesey, J. J. Pointon, G. Barbabietola, A. Piga, P. H. Mackie, K. J. H. Robson, and C. Camaschella A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4? Blood, June 28, 2002; 100(2): 733 - 734. [Full Text] [PDF]

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