Algorithm for an individual who has a clinically significant variant in the G6PD gene

Algorithm for an individual who has a clinically significant variant in the G6PD gene

This algorithm can be used for a child or adult. It is not intended to imply that genetic testing is the preferred means of screening. Refer to UpToDate for details of our approach to evaluating for G6PD deficiency and additional details of management.

G6PD: glucose-6-phosphate dehydrogenase; CBC: complete blood count.

* Normal ranges for G6PD activity may vary depending on the assay method; the normal reference range provided by the testing laboratory should be used.

¶ Hemolysis can falsely lower the G6PD activity in a biochemical test. If G6PD activity is decreased during hemolysis, the diagnosis is confirmed.

Δ Refer to UpToDate for a detailed list.

◊ For individuals with episodic hemolysis, monitor CBC and reticulocyte count during acute infections or hospitalization; those with chronic hemolysis may require more frequent monitoring according to an individualized schedule. If the activity is not decreased (normal or borderline) in the midst of a hemolytic episode, it should be repeated.

§ In a child, may present as neonatal jaundice.

¥ A female with skewed X-inactivation may have negative (or borderline) results from a biochemical assay. It may be reasonable to test first-degree relatives.

Graphic 127829 Version 3.0

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Algorithm for an individual who has a clinically significant variant in the G6PD gene