Nonspherocytic haemolytic anaemia due to hexokinase deficiency (Q99644)

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.

Language	Label	Description	Also known as
default for all languages	ID_1942043262
English	Nonspherocytic haemolytic anaemia due to hexokinase deficiency	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.