Acute hemolytic anemia and methemoglobinemia in a pediatric oncology patient with G6PD deficiency: a case report
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymatic disorder that is often asymptomatic until exposure to oxidative stress, such as certain medications. Rasburicase, used for tumor lysis syndrome (TLS) prophylaxis, can trigger hemolysis in G6PD-deficient patients. CASE PRESENTATION: We report a nine-year-old Asian boy with acute myeloid leukemia (AML) and hyperleukocytosis who developed severe hemolytic anemia and methemoglobinemia shortly after receiving rasburicase for TLS. Enzymatic testing suggested G6PD deficiency but was unreliable due to hyperleukocytosis. Rasburicase was discontinued, and supportive care with ascorbic acid led to rapid clinical improvement. Subsequent gene-panel analysis using whole exome sequencing (WES) confirmed a pathogenic class B G6PD variant (Viangchan). CONCLUSION: variant classification. This enables careful dose adjustments and proactive monitoring for G6PD-related hemolysis caused by high-risk drugs in pediatric oncology.
Authors
- Alwin D. R. Huitema (ORCID: https://orcid.org/0000-0003-1939-4639)
- Monique H. Suijker (ORCID: https://orcid.org/0000-0001-8116-838X)
- Katja M. J. Heitink‐Pollé (ORCID: https://orcid.org/0000-0002-6601-7812)
- Maaike Luesink
- Meta H.M. Diekstra (ORCID: https://orcid.org/0000-0002-9368-3650)
- Lidwien M. Hanff (ORCID: https://orcid.org/0000-0003-1127-1589)
- Chaja N Klein
Institutions
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NL)
- Princess Máxima Center (NL)
- Wilhelmina Children's Hospital (NL)
Publication Details
- Journal
- Pharmacogenomics
- Published
- 2026-04-13
- DOI
- https://doi.org/10.1080/14622416.2026.2658474
- Citations
- 1
- Primary Topic
- Methemoglobinemia and Tumor Lysis Syndrome
- Type
- article
- Field-Weighted Citation Impact
- 22.03