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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2001-11-0132. This Article Full Text Full Text (PDF) All Versions of this Article: 2001-11-0132v1 100/2/695    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 Devalia, V. Articles by Dooley, J. S. Search for Related Content PubMed PubMed Citation Articles by Devalia, V. Articles by Dooley, J. S. Related Collections Transplantation 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. 695-697 BRIEF REPORT Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3) Vinod Devalia, Kymberley Carter, Ann P. Walker, Stephen J. Perkins, Mark Worwood, Alison May, and James S. Dooley From the Department of Haematology, Princess of Wales Hospital, Bridgend, United Kingdom; the Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff; the Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, University College London, Royal Free Campus; and the Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, University College London, all from United Kingdom. We describe a family with autosomal dominant inheritance of increased body iron stores characterized by raised serum ferritin concentration and normal transferrin saturation. Liver biopsy showed iron deposition in Kupffer cells without fibrosis. The clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations. Venesection therapy was poorly tolerated, suggesting a defect in iron release from reticuloendothelial stores. A 3-base pair deletion in exon 5 of the ferroportin 1 gene (SLC11A3) predicting Val162 deletion was found in affected members, but not in unaffected individuals or in 100 control subjects. Consensus structural predictions of the transmembrane helices showed that the deletion is in the extracellular loop between the third and fourth predicted transmembrane helices and lies within a spatial cluster of other known ferroportin 1 mutations. These results indicate that this extracellular cluster is functionally important for iron transport, and its disruption leads to 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: E. Corradini, F. Ferrara, T. Pollicino, A. Vegetti, G. L. Abbati, L. Losi, G. Raimondo, and A. Pietrangelo Disease progression and liver cancer in the ferroportin disease Gut, July 1, 2007; 56(7): 1030 - 1032. [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] C A McCune, D Ravine, K Carter, H A Jackson, D Hutton, J Hedderich, M Krawczak, and M Worwood Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients Gut, April 1, 2006; 55(4): 554 - 562. [Abstract] [Full Text] [PDF] M. Wessling-Resnick Iron Imports. III. 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[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] K J Robson Hepcidin and its role in iron absorption Gut, May 1, 2004; 53(5): 617 - 619. [Abstract] [Full Text] [PDF] H. Mok, J. Jelinek, S. Pai, B. M. Cattanach, J. T. Prchal, H. Youssoufian, and A. Schumacher Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice Development, April 15, 2004; 131(8): 1859 - 1868. [Abstract] [Full Text] [PDF] J. Chung, D. J. Haile, and M. Wessling-Resnick Copper-induced ferroportin-1 expression in J774 macrophages is associated with increased iron efflux PNAS, March 2, 2004; 101(9): 2700 - 2705. [Abstract] [Full Text] [PDF] J. Chung, J. R. Prohaska, and M. 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