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Hereditary red cell enzyme deficiencies

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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.

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