Clinical test requested for suspicion of (G6PD) enzyme deficiency.

Clinical Significance

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in the world, affecting an estimated 400 million people worldwide. It is more common in people of African, Mediterranean, and Asian descent. G6PD deficiency is an X-linked genetic disorder and, in general, affects males more than females. Severity ranges from mild to severe subtypes. Newborns with G6PD deficiency may have prolonged and more pronounced neonatal jaundice than other newborns. Adults with G6PD deficiency may have episodes of acute hemolytic anemia. The disease symptoms may include jaundice, fatigue, splenomegaly, and dark urine. Episodes may be induced by illness (infections), certain foods (fava beans), and particular medications (for example some sulfonamides and antimalarial drugs); therefore, some precautions may be recommended to avoid offending triggers. 

When is it ordered?

G6PD enzyme testing is primarily performed when an individual has signs and symptoms associated with hemolytic anemia. Testing may be done when someone has had an episode of increased RBC destruction but after the crisis has resolved. Some signs and symptoms of the disease include:

  • Fatigue, weakness
  • Pale skin (pallor)
  • Fainting
  • Shortness of breath
  • A rapid heart rate
  • Jaundice
  • Red or brown urine (from the presence of blood/hemoglobin)
  • Enlarged spleen