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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.
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RED CELLS
Brief report
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
From the Institut National de la Santé et de la Recherche Médicale (INSERM), U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Paris, France; Université Paris 7 Denis Diderot, Faculté de médecine site Bichat, Paris, France; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Centre de Référence des Maladies Constitutionnelles du Globule Rouge et de l'Erythropoïèse, Le Kremlin-Bicêtre, France; AP-HP, Hôpital Bicêtre, Laboratoire d'Hématologie, Le Kremlin-Bicêtre, France; INSERM, U473, Hôpital Bicêtre, Le Kremlin-Bicêtre, France; Université Paris 11, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France; and AP-HP, Hôpital Bichat, Service de Biochimie Hormonale et Génétique, Paris, France.
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 transferrintransferrin receptor complex. DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in 2 human patients described recently. We report a compound heterozygote for 2 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 is a G  T substitution in exon 8 leading to the G212V replacement in transmembrane domain 5. Together with the 2 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.
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