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G6PD activity in pediatric patients with the G6PD Ilesha variant: A case series G6PD Ilesha variant in Pediatric

Katherine M Robinson1, Meghan D McNulty1, Kristine R Crews1

  • 1Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.

Clinical Biochemistry
|May 13, 2026
PubMed

Insights

The G6PD Ilesha variant, previously of uncertain clinical significance, showed no hemolytic anemia in patients, even after exposure to rasburicase. This suggests its classification may need reevaluation.

Area of Science:

  • Genetics
  • Hematology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency can lead to hemolytic anemia upon exposure to oxidative stress.
  • The G6PD Ilesha variant (c.466G>A) is classified as a WHO Class U allele with uncertain clinical significance, despite conflicting evidence regarding its pathogenicity.
Abstract

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