Catalog

Nonspherocytic haemolytic anaemia due to hexokinase deficiency

No MMS code

Link to WHO Definition

Nonspherocytic haemolytic anaemia due to hexokinase deficiency – http://id.who.int/icd/entity/1942043262

Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe haemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.