hereditary red cell enzyme deficiencies
Last reviewed 01/2018
Two important pathways are essential for the normal function of the mature red blood cell:-
- reduced NADP is produced by the hexose-monophosphate pathway, and is needed to protect against oxidative damage to the red blood cell
- cellular energy is largely derived from the glycolytic pathway.
Deficiency of G6PD - in the hexose monophosphate shunt - or of pyruvate kinase - in the glycolytic pathway - are two of the more common enzyme deficiencies causing haemolytic anaemia.