Article
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
Blood cells, molecules & diseases - 15 Dec 2011
Bardou-Jacquet Edouard, Island Marie-Laure, Jouanolle Anne-Marie, Détivaud Lénaïck, Fatih Nadia, Ropert Martine, Brissot Eolia, Mosser Annick, Maisonneuve Hervé, Brissot Pierre, Loréal Olivier
Abstract excerpt
BACKGROUND: DMT1 is a transmembrane iron transporter involved in iron duodenal absorption and cellular iron uptake. Mutations in the human SLC11A2 gene coding DMT1 lead to microcytic anemia and hepatic iron overload, with unexpectedly low levels of plasma ferritin in the presence of iron stores. DESIGN AND METHODS: We report a patient with a similar phenotype due to two mutations in the SLC11A2 gene, the known...
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