Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic condition affecting an estimated 400 to 500 million people worldwide and is the most common genetic cause of chronic hemolytic anemia and drug-, food-, or infection-induced hemolytic anemia. Most G6PD-deficient individuals are asymptomatic, unless they are exposed to a triggering event (e.g., fava beans, certain drugs). When this happens, the result can be life-threatening with the most common clinical manifestation being acute hemolytic anemia, which is characterized by fatigue, back pain, anemia, and jaundice. In rare cases, individuals with the most severe genotype of G6PD deficiency exhibit chronic nonspherocytic hemolytic anemia (CNSHA) in the absence of any triggering agents. A Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline exists for guiding medication use in the context of G6PD deficiency. In individuals with G6PD deficiency, high-risk medications should be avoided, medium-risk medications should be used with caution, and low-to-no risk medications can be used with standard precautions, without regard to G6PD phenotype.

In pursuit of providing high quality and systematic curation of G6PD variants, we have assembled a panel of clinical, academic, and industry experts in the fields of genetics, pharmacogenomics, hematology, functional genetics, and biochemistry. With research progressing, determining the clinical impact of G6PD variants is critical to ongoing efforts towards diagnosis and patient care. Curation efforts will synergize with ongoing functional studies, analyses of function/genotype/phenotype correlations, and efforts to guide pharmacotherapy recommendations.

ClinGen Actionability Report for G6PD: https://search.clinicalgenome.org/kb/genes/HGNC:4057