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- The most common disease producing enzymopathy in humans
- Affects 400 million people worldwide
- Highest prevalence is among persons of African, Asian, and Mediterranean descent
- Patients can be asymptomatic but may present with symptoms of acute hemolytic anemia, which may be precipitated by certain medications (Oxidative medications) or foods (some types of beans)
- Avoid oxidative drugs (consult your PharmD when your patient has G6PDd)
- Diagnosis: Measure the actual enzyme activity of G6PD rather than the amount of the enzyme. A more practical test is the presence of Indirect hyperbilirubinemia, but it is non specific
- Treatment consists of oxygen and bed rest in minor cases. However, severe cases may require PRBC transfusion
References
Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. Jan 1 2008;111(1):16-24
Nkhoma ET, Poole C, Vannappagari V, et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. May-Jun 2009;42(3):267-78