title: Natural history of recessive inheritance of DMT1 mutations.
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.
authors.affiliation: Department of Biochemistry and Medical Biotechnologies, University of Federico II and CEINGE Advanced Biotechnologies, Naples, Italy. iolascon@ceinge.unina.it
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
authors.forename: D
authors.initials: D
authors.lastname: Pospisilova
authors.forename: C
authors.initials: C
authors.lastname: Piscopo
authors.forename: G
authors.initials: G
authors.lastname: Tchernia
authors.forename: C
authors.initials: C
authors.lastname: Beaumont
mesh_terms: D000747:Anemia, Hypochromic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D027682:Cation Transport Proteins / Q000172:deficiency / Q000235:genetics*; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000378:metabolism; D004921:Erythropoietin / Q000627:therapeutic use; D005293:Ferritins / Q000097:blood; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007502:Iron Chelating Agents / Q000627:therapeutic use; D009154:Mutation; D010641:Phenotype; D014168:Transferrin / Q000378:metabolism; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D004921:Erythropoietin; D005293:Ferritins; D007502:Iron Chelating Agents; D014168:Transferrin; D000099236:Solute Carrier Family 11, Member 2