SEARCH:   Advanced

Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2001-11-0132. This Article 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 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 Related Letter in Blood Online Social Bookmarking                   What's this? Submitted November 30, 2001 Accepted March 9, 2002 Autosomal dominant reticulo-endothelial iron overload associated with a three 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 Department of Haematology, Princess of Wales Hospital, Bridgend, United Kingdom Department of Haematology, University of Wales College of Medicine, Cardiff, United Kingdom Centre for Hepatology, Department of Medicine, Royal Free and University College Medical School, London, United Kingdom Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, London, United Kingdom * Corresponding author; email: worwood{at}cardiff.ac.uk. We describe a family with autosomal dominant inheritance of increased body iron stores characterised 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 haemochromatosis were absent as were the C282Y and H63D mutations. Venesection therapy was poorly tolerated suggesting a defect in iron release from reticuloendothelial stores. A three base pair deletion in exon 5 of the ferroportin 1 gene (SLC11A3) predicting V162del was found in affected members but not in unaffected individuals or in 100 control subjects. Consensus structural predictions of the transmembrane helices show 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. 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: 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] K.-y. Yeh, M. Yeh, L. Mims, and J. Glass Iron feeding induces ferroportin 1 and hephaestin migration and interaction in rat duodenal epithelium Am J Physiol Gastrointest Liver Physiol, January 1, 2009; 296(1): G55 - G65. [Abstract] [Full Text] [PDF] 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. Transfer of iron from the mucosa into circulation Am J Physiol Gastrointest Liver Physiol, January 1, 2006; 290(1): G1 - G6. [Abstract] [Full Text] [PDF] C. Camaschella Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Blood, December 1, 2005; 106(12): 3710 - 3717. [Abstract] [Full Text] [PDF] H. Drakesmith, L. M. Schimanski, E. Ormerod, A. T. Merryweather-Clarke, V. Viprakasit, J. P. Edwards, E. Sweetland, J. M. Bastin, D. Cowley, Y. Chinthammitr, et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin Blood, August 1, 2005; 106(3): 1092 - 1097. [Abstract] [Full Text] [PDF] V N Subramaniam, D F Wallace, J L Dixon, L M Fletcher, and D H Crawford Ferroportin disease due to the A77D mutation in Australia Gut, July 1, 2005; 54(7): 1048 - 1049. [Full Text] [PDF] F. Yang, D. J. Haile, X. Wang, L. A. Dailey, J. G. Stonehuerner, and A. J. Ghio Apical location of ferroportin 1 in airway epithelia and its role in iron detoxification in the lung Am J Physiol Lung Cell Mol Physiol, July 1, 2005; 289(1): L14 - L23. [Abstract] [Full Text] [PDF] I. De Domenico, D. M. Ward, E. Nemeth, M. B. Vaughn, G. Musci, T. Ganz, and J. Kaplan The molecular basis of ferroportin-linked hemochromatosis PNAS, June 21, 2005; 102(25): 8955 - 8960. [Abstract] [Full Text] [PDF] L. M. Schimanski, H. Drakesmith, A. T. Merryweather-Clarke, V. Viprakasit, J. P. Edwards, E. Sweetland, J. M. Bastin, D. Cowley, Y. Chinthammitr, K. J. H. Robson, et al. 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] 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. Wessling-Resnick Ferroportin-1 Is Not Upregulated in Copper-Deficient Mice J. Nutr., March 1, 2004; 134(3): 517 - 521. [Abstract] [Full Text] [PDF] G. Biasiotto, S. Belloli, G. Ruggeri, I. Zanella, G. Gerardi, M. Corrado, E. Gobbi, A. Albertini, and P. Arosio Identification of New Mutations of the HFE, Hepcidin, and Transferrin Receptor 2 Genes by Denaturing HPLC Analysis of Individuals with Biochemical Indications of Iron Overload Clin. Chem., December 1, 2003; 49(12): 1981 - 1988. [Abstract] [Full Text] [PDF] M. D. Knutson, M. R. Vafa, D. J. Haile, and M. Wessling-Resnick Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages Blood, December 1, 2003; 102(12): 4191 - 4197. [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] R. S. Eisenstein and K. L. Ross Novel Roles for Iron Regulatory Proteins in the Adaptive Response to Iron Deficiency J. Nutr., May 1, 2003; 133(5): 1510S - 1516. [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]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020