Preferred Label : Microcytic anaemia with liver iron overload;
ICD-11 definition : Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically
associated with normal to moderately elevated serum ferritin levels has been described
in three unrelated patients. This syndrome is due to mutations in DMT1 which codes
for a transporter mediating the uptake of iron from the intestinal lumen in cytosol
of duodenal enterocytes. Anemia poorly responds to oral iron treatment.;
Origin ID : 1532897638;
Currated CISMeF NLP mapping
Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically
associated with normal to moderately elevated serum ferritin levels has been described
in three unrelated patients. This syndrome is due to mutations in DMT1 which codes
for a transporter mediating the uptake of iron from the intestinal lumen in cytosol
of duodenal enterocytes. Anemia poorly responds to oral iron treatment.
