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Blood, 15 May 2006, Vol. 107, No. 10, pp. 4168-4170. Prepublished online as a Blood First Edition Paper on January 26, 2006; DOI 10.1182/blood-2005-10-4269. This Article Full Text (PDF) Supplemental Table All Versions of this Article: 2005-10-4269v1 107/10/4168    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 Beaumont, C. Articles by Tchernia, G. Search for Related Content PubMed PubMed Citation Articles by Beaumont, C. Articles by Tchernia, G. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted October 27, 2005 Accepted January 12, 2006 Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload Carole Beaumont*, Jean Delaunay, Gilles Hetet, Bernard Grandchamp, Mariane de Montalembert, and Gil Tchernia INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon, Paris, France Centre de Reference des Maladies Constitutionnelles du Globule Rouge et de l'Erythropoiese, AP-HP, Hopital Bicetre, Le Kremlin Bicetre, France; INSERM, U473, Hopital Bicetre; Universite Paris 11, Faculte de Medecine Paris-Sud, Le Kremlin Bicetre, France Service de Biochimie Hormonale et Genetique, AP-HP, Hopital Bichat, Paris, France INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon, Paris, France; Service de Biochimie Hormonale et Genetique, AP-HP, Hopital Bichat, Paris, France Centre de Reference des Maladies Constitutionnelles du Globule Rouge et de l'Erythropoiese, AP-HP, Hopital Bicetre, Le Kremlin Bicetre, France * Corresponding author; email: beaumont{at}bichat.inserm.fr. DMT1 mediates the pH-dependent uptake of Fe2+ from the diet in duodenal enterocytes and in most other cells. It transfers iron from the endosomes to the cytosol following the uptake of the transferrin-transferrin receptor complex. DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in two human patients described recently. We report a compound heterozygote for two new DMT1 mutations, associated with microcytic anemia from birth and progressive liver iron overload. The first mutation is a GTG deletion in exon 5, leading to the V114 in-frame deletion in transmembrane domain 2, and the second a G >T substitution in exon 8 leading to the G212V replacement in transmembrane domain 5. Together with the two previously reported cases, this patient defines a new syndrome of congenital microcytic hypochromic anemia, poorly responsive to oral iron treatment, with liver iron overload associated paradoxically with normal to moderately elevated serum ferritin levels. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: N. M. E. Hossainy Late diagnosis of a rare disease BMJ Case Reports, April 14, 2009; 2009(apr07_2): bcr0720080386 - bcr0720080386. [Abstract] [Full Text] A. Iolascon, L. De Falco, and C. Beaumont Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis Haematologica, March 1, 2009; 94(3): 395 - 408. [Abstract] [Full Text] [PDF] N. J. Foot, H. E. Dalton, L. M. Shearwin-Whyatt, L. Dorstyn, S.-S. Tan, B. Yang, and S. 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