The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts—bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.
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We gratefully acknowledge the participation of all the families with this genetic disorder. We thank P. Drapeau for advice on zebrafish physiology and experimentation and P. Wise and E. Wasson for expert technical assistance. The following agencies provided funding for this project: Genome Canada (M.E.S.), Genome Atlantic (M.E.S.), Nova Scotia Health Research Foundation (M.E.S.), Nova Scotia Research and Innovation Trust (M.E.S.), IWK Health Centre Foundation (M.E.S.), Dalhousie University (M.E.S.), Capital Health Research Fund (M.E.S.), Fonds de la Recherche en Santé de Québec (L.S.-A.), NIH K01 DK074410 (P.J.S.) and NIH R01 DK080011 (M.D.F.), The US Department of Veterans Affairs (S.S.B.), University of Oklahoma Health Sciences Center Provost's Fund (S.S.B.), and the Oklahoma Center for Advancement of Science and Technology (S.S.B.).
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Guernsey, D., Jiang, H., Campagna, D. et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet 41, 651–653 (2009). https://doi.org/10.1038/ng.359
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