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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 (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 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. Social Bookmarking                   What's this? Submitted February 10, 2003 Accepted April 23, 2003 Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and three new ferroportin (slc11A3) mutations Gilles Hetet, Isabelle Devaux, Nadem Soufir, Bernard Grandchamp, and Carole Beaumont* INSERM, Unite 409, Faculte Xavier Bichat, Paris, France Association Claude Bernard, Paris, France Laboratoire de Biochimie Hormonale et Genetique, Hopital Xavier Bichat, Paris, France * Corresponding author; email: beaumont{at}bichat.inserm.fr. Unexplained hyperferritinemia is a common clinical finding, even in asymptomatic persons. When early onset bilateral cataract is also present, the hereditary hyperferritinemia-cataract syndrome (HHCS), due to heterozygous point mutation in the L ferritin 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 H63D heterozygotes (12 out of 28), but no H ferritin mutations. We identified three new ferroportin mutations, producing, respectively, D157G, Q182H and G323V 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. 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