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Uptodate Reference Title
Management implications of results of G6PD genetic testing
Management implications of results of G6PD genetic testing
Population*
Recommendations
All individuals
Avoid oxidant medications
Avoid fava beans
Avoid other substances that may trigger an episode of hemolysis
Follow hemoglobin level and markers of hemolysis¶ more closely in the setting of acute infections or other metabolic stresses
Inform family members of the diagnosis so that they can discuss testing and counseling with their clinician
Individuals with chronic hemolysis
All of the above
Folic acid supplementation*
Monitoring of the hemoglobin level and markers of hemolysis¶
Documentation of G6PD deficiency is generally done by biochemical testing. If genetic testing is positive and the individual has not yet had biochemical testing, we would perform biochemical testing for confirmation. In most cases, G6PD deficiency is an asymptomatic condition with hemolysis only following exposure to an oxidant stress. Rare variants in G6PD are associated with chronic hemolytic anemia.
G6PD: glucose-6-phosphate dehydrogenase; LDH: lactate dehydrogenase. * Typical dose, 1 mg daily; may be higher in pregnancy. ¶ Markers of hemolysis include reticulocyte count, LDH, bilirubin, and haptoglobin.
Supported by an unrestricted educational grant from AncestryHealth®.