Catalog

Microcytic anaemia with liver iron overload

No MMS code

Link to WHO Definition

Microcytic anaemia with liver iron overload – http://id.who.int/icd/entity/1532897638

Congenital hypochromic microcytic anaemia 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. anaemia poorly responds to oral iron treatment.