Preferred Label : Nonspherocytic haemolytic anaemia due to hexokinase deficiency;
ICD-11 definition : Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by
severe hemolysis, 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.;
ICD-11 synonym : anaemia due to hexokinase deficiency;
Origin ID : 1942043262;
CISMeF manual mappings
- Currated CISMeF NLP mapping
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by
severe hemolysis, 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.
