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Pyruvate kinase deficiency
Overview Symptoms Treatment Prevention
Symptoms:
  • A family history of pyruvate kinase deficiency
  • Pallor
  • Jaundice
  • A yellowing of the whites of the eyes (icterus)
  • Fatigue, lethargy caused by anemia
  • Recurrent gallstones
Signs and tests:
During a physical exam, the doctor will look for an enlarged spleen.

Tests include the following:
  • CBC showing anemia with normocytic (not pale) red blood cells
  • macrocytosis (large red blood cells)
  • pyruvate kinase activity shows deficient levels of this enzyme in red blood cells
  • high levels of bilirubin in the blood
  • low levels of haptoglobin in the blood
  • increased osmotic fragility or red blood cells may not be present
  • high fecal urobilinogen
  • genetic testing for mutation in the pyruvate kinase gene
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