g14.docx - Red cell enzyme defects Red cells have two main metabolic pathways one burning glucose anaerobically to produce energy the other generating

g14.docx - Red cell enzyme defects Red cells have two main...

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Red cell enzyme defects Red cells have two main metabolic pathways, one burning glucose anaerobically to produce energy, the other generating reduced glutathione to protect against injurious oxidants. Many inherited enzyme defects have been described. Some of those of the energy pathway (e.g. pyruvate kinase deficiency) cause haemolytic anaemia; any child with this type of anaemia from birth should be referred to a centre capable of analysing the major red cell enzymes. Glucose 6 phosphate ‐ ‐ dehydrogenase (G6PD) deficiency involves the protective pathway. It affects millions of people worldwide, mainly the same racial groups as are affected by the thalassaemias. G6PD deficiency is sex linked and affects predominantly males (Box 3.10). It causes neonatal jaundice, sensitivity to broad (fava) beans and haemolytic responses to oxidant drugs. Red cell membrane defects The red cell membrane is a complex sandwich of proteins that are required to maintain the integrity of the cell. There are many inherited defects of the membrane proteins, some of which cause haemolytic anaemia. Hereditary
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  • Spring '18
  • Mr. kanor
  • Hemoglobin, pyruvatekinase deficiency

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