G6PD encodes glucose-6-phosphate dehydrogenase (515 aa). Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. Highest expression in Testis (146.0 TPM) and Whole Blood (132.1 TPM).

Anemia, nonspherocytic hemolytic, due to G6PD deficiency is caused by mutations in the G6PD gene on chromosome X.

The G6PD protein participates in Pentose phosphate pathway pathway.

G6PD is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 2.9.

Genetic testing for G6PD is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for anemia, nonspherocytic hemolytic, due to G6PD deficiency has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 1 very common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for anemia, nonspherocytic hemolytic, due to G6PD deficiency.

104 publications have been identified in PubMed for anemia, nonspherocytic hemolytic, due to G6PD deficiency. Research spans Basic Science / Preclinical (22%), Epidemiology / Natural History (20%), and Diagnostic / Biomarker (18%).

Recent Publications

• Buchrits S (2026). [PMID: 41568578](https://pubmed.ncbi.nlm.nih.gov/41568578/). *Cancer*. [Clinical Trial Publication]

• Boonpeng K (2026). [PMID: 41620166](https://pubmed.ncbi.nlm.nih.gov/41620166/). *Acta Trop*. [Basic Science / Preclinical]

• Srisutham S (2026). [PMID: 41620163](https://pubmed.ncbi.nlm.nih.gov/41620163/). *Acta Trop*. [Diagnostic / Biomarker]

• Zhu X (2026). [PMID: 41577073](https://pubmed.ncbi.nlm.nih.gov/41577073/). *Cancer Lett*. [Basic Science / Preclinical]

• Dhami AS (2026). [PMID: 41647927](https://pubmed.ncbi.nlm.nih.gov/41647927/). *Cureus*. [Case Report / Case Series]

• Wang Z (2026). [PMID: 42115943](https://pubmed.ncbi.nlm.nih.gov/42115943/). *BMC Genom Data*. [Diagnostic / Biomarker]

• Archambeaud A (2026). [PMID: 42172240](https://pubmed.ncbi.nlm.nih.gov/42172240/). *PLoS One*. [Epidemiology / Natural History]

• Nuin NA (2026). [PMID: 41987254](https://pubmed.ncbi.nlm.nih.gov/41987254/). *Malar J*. [Diagnostic / Biomarker]

• Mak GK (2026). [PMID: 29262208](https://pubmed.ncbi.nlm.nih.gov/29262208/). *Unknown Journal*. [Review / Meta-Analysis]

• Klein CN (2026). [PMID: 41972917](https://pubmed.ncbi.nlm.nih.gov/41972917/). *Pharmacogenomics*. [Case Report / Case Series]