G6PD activity in pediatric patients with the G6PD Ilesha variant: A case series G6PD Ilesha variant in Pediatric patients
- Katherine M. Robinsonb(Author),
- Meghan D. McNultyb(Author),
- Kristine R. Crewsb(Author),
- Allison W. Braggb(Author),
- Raul C. Ribeirob(Author),
- Kelsey C. Bertrandb(Author)
- ,
- bSt. Jude Children's Research Hospital
Abstract
Background: Patients with glucose-6-phosphate deficiency exposed to oxidative triggers may develop hemolytic anemia. The G6PD Ilesha variant (NM_001042351.3: c.466G > A p.Glu156Lys) is a rare variant that is currently categorized as a WHO Class U allele: decreased G6PD uncertain clinical significance. However, there is conflicting evidence for the pathogenicity of the G6PD Ilesha variant. Case report: Here we present a case series of four patients with the Ilesha variant, two hemizygous patients and two heterozygous patients for Ilesha. All four patients had normal G6PD activity. The two heterozygous patients were exposed to rasburicase, a high-risk medication in the setting of G6PD deficiency, and neither had hemolytic anemia. Conclusion: The classification of the Ilesha variant may need to be reconsidered.