When is glucose-6-phosphate dehydrogenase (G6PD) deficiency testing indicated?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

Indications for testing for glucose-6-phosphatase dehydrogenase (G6PD) deficiency include the following:

  • Unexplained severe or prolonged neonatal hyperbilirubinemia with poor response to phototherapy
  • Family history suggestive of G6PD deficiency, especially among males
  • Development of hemolysis after taking medications or experiencing conditions that induce oxidative stress, especially in patients of African, Mediterranean, or Asian descent
  • Recurrent jaundice, splenomegaly, or cholelithiasis in patients of African, Mediterranean, or Asian descent [4]  
  • Nonspherocytic hemolytic anemia (since the underlying cause may be severe G6PD deficiency and chronic hemolysis)

In January 2020, the British Society for Haematology released guidelines for the laboratory diagnosis of G6PD deficiency that recommended re‐assay after a hemolytic episode of unknown cause to confirm that a G6PD-deficiency diagnosis was not missed. [38]


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