DMT1 deficiency

Genetic defects of DMT1, a metal transporter in duodenal enterocytes, which also transfer endosomal iron in erythroblasts, have been recently recognized in two adult and one paediatric patients. All had hypochromic-microcytic anaemia associated with normal/increased transferrin saturation and increased serum ferritin. Unexpectedly all patients had liver iron overload. Two patients responded to erythropoietin treatment. Defects of this type, although rare, likely remain undiagnosed.

Synonym: Nramp2 deficiency