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.

Graphic 127411 Version 2.0

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Management implications of results of G6PD genetic testing