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Prepublished online as a Blood First Edition Paper on May 1, 2003; DOI 10.1182/blood-2003-02-0439. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: 2003-02-0439v1 102/5/1904    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 Hetet, G. Articles by Beaumont, C. Search for Related Content PubMed PubMed Citation Articles by Hetet, G. Articles by Beaumont, C. Related Collections Red Cells Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 September 2003, Vol. 102, No. 5, pp. 1904-1910 RED CELLS Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations Gilles Hetet, Isabelle Devaux, Nadem Soufir, Bernard Grandchamp, and Carole Beaumont From the Institut National de la Santé et de la Recherche Médicale (INSERM) U409, Faculté Xavier Bichat, Paris; Association Claude Bernard, Paris; and Laboratoire de Biochimie Hormonale et Génétique, Hôpital Xavier Bichat, Paris, France. Unexplained hyperferritinemia is a common clinical finding, even in asymptomatic persons. When early onset bilateral cataracts are also present, the hereditary hyperferritinemia-cataract syndrome (HHCS), because of heterozygous point mutation in the L ferritin iron-responsive element (IRE) sequence, can be suspected. We sequenced the L ferritin exon 1 in 52 DNA samples from patients referred to us for molecular diagnosis of HHCS. We identified 24 samples with a point mutation/deletion in the IRE. For the 28 samples in which no IRE mutation was present, we also genotyped HFE mutations and sequenced both H ferritin and ferroportin genes. We found an increased frequency of His63Asp heterozygotes (12 of 28) but no H ferritin mutations. We identified 3 new ferroportin mutations, producing, respectively, Asp157Gly, Gln182His, and Gly323Val amino acid replacements, suggesting that these patients have dominant type 4 hemochromatosis. This study demonstrates that both L ferritin IRE and ferroportin mutations can account for isolated hyperferritinemia. The presence of cataract does not permit the unambiguous identification of patients with HHCS, although the existence of a family history of cataract was only encountered in these patients. This raises the intriguing possibility that lens ferritin accumulation might be a factor contributing to age-related cataract in the general population. Additional causes of isolated hyperferritinemia remain to be identified. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Camaschella and E. Poggiali Towards explaining "unexplained hyperferritinemia" Haematologica, March 1, 2009; 94(3): 307 - 309. [Full Text] [PDF] C. Kannengiesser, A.-M. Jouanolle, G. Hetet, A. Mosser, F. Muzeau, D. Henry, E. Bardou-Jacquet, M. Mornet, P. Brissot, Y. Deugnier, et al. A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload Haematologica, March 1, 2009; 94(3): 335 - 339. [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] S. Chlosta, D. S. Fishman, L. Harrington, E. E. Johnson, M. D. Knutson, M. Wessling-Resnick, and B. J. Cherayil The Iron Efflux Protein Ferroportin Regulates the Intracellular Growth of Salmonella enterica. Infect. Immun., May 1, 2006; 74(5): 3065 - 3067. [Abstract] [Full Text] [PDF] C. Schmitt, L. Gouya, E. Malonova, J. Lamoril, J.-M. Camadro, M. Flamme, C. Rose, S. Lyoumi, V. Da Silva, C. Boileau, et al. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria Hum. Mol. Genet., October 15, 2005; 14(20): 3089 - 3098. [Abstract] [Full Text] [PDF] M. Goralska, S. Nagar, L. N. Fleisher, and M. C. McGahan Differential Degradation of Ferritin H- and L-Chains: Accumulation of L-Chain-Rich Ferritin in Lens Epithelial Cells Invest. Ophthalmol. Vis. Sci., October 1, 2005; 46(10): 3521 - 3529. [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] 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. 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]

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