Abstract
DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Anemia, Hypochromic / diagnosis
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Anemia, Hypochromic / drug therapy
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Anemia, Hypochromic / genetics*
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Cation Transport Proteins / deficiency
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Cation Transport Proteins / genetics*
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Diagnosis, Differential
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Erythrocytes / metabolism
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Erythropoietin / therapeutic use
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Ferritins / blood
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Genes, Recessive*
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Genotype
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Humans
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Infant, Newborn
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Iron Chelating Agents / therapeutic use
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Mutation*
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Phenotype
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Transferrin / metabolism
Substances
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Cation Transport Proteins
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Iron Chelating Agents
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Transferrin
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solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2
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Erythropoietin
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Ferritins