Несфероцитарна гемолітична анемія внаслідок дефіциту гексокінази

Визначення(English summary)

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.