{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:39:29Z","timestamp":1787009969106,"version":"build-2736575974"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>\n                    Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic anemia after exposure to fava beans or certain medications. Activity testing is the gold standard for detecting G6PD deficiency; however, this test is affected by various hematologic parameters. Clinical\n                    <jats:italic toggle=\"yes\">G6PD<\/jats:italic>\n                    genotyping is now included in pharmacogenetic arrays and clinical sequencing efforts and may be reconciled with activity results. Patients (\n                    <jats:italic toggle=\"yes\">n<\/jats:italic>\n                    = 1391) enrolled on an institutional pharmacogenetic testing protocol underwent clinical\n                    <jats:italic toggle=\"yes\">G6PD<\/jats:italic>\n                    genotyping for 164\n                    <jats:italic toggle=\"yes\">G6PD<\/jats:italic>\n                    variants. An algorithm accounting for known interferences with the activity assay is proposed. We developed clinical decision support alerts to inform prescribers when high-risk medications were prescribed, warning of gene\u2013drug interactions and recommending therapy alteration. Of 1391 patients with genotype results, 1334 (95.9%) patients were predicted to have normal G6PD activity, 30 (2.1%) were predicted to have variable G6PD activity and 27 (2%) were predicted to have deficient G6PD activity. Of the 417 patients with a normal genotype and an activity result, 415 (99.5%) had a concordant normal G6PD phenotype. Of the 21 patients with a deficient genotype and an activity result, 18 (85.7%) had a concordant deficient activity result. Genotyping reassigned phenotype in five patients with discordant genotype and activity results: three switched from normal to deficient, and two switched from deficient to normal. G6PD activity and genotyping are two independent testing methods that can be used in conjunction to assign a more informed G6PD phenotype than either method alone.\n                  <\/jats:p>","DOI":"10.1097\/fpc.0000000000000456","type":"journal-article","created":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T06:07:39Z","timestamp":1635142059000},"page":"87-93","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":17,"title":["Incorporating G6PD genotyping to identify patients with G6PD deficiency"],"prefix":"10.1097","volume":"32","author":[{"given":"Sarah A.","family":"Morris","sequence":"first","affiliation":[{"name":"Department of Pharmacy and Pharmaceutical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine R.","family":"Crews","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Pharmaceutical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randall T.","family":"Hayden","sequence":"additional","affiliation":[{"name":"Department of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clifford M.","family":"Takemoto","sequence":"additional","affiliation":[{"name":"Department of Hematology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjian","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Pharmaceutical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald K.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Information Sciences, St. Jude Children\u2019s Research Hospital, Memphis, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Broeckel","sequence":"additional","affiliation":[{"name":"RPRD Diagnostics LLC"},{"name":"Department of Pediatrics, Section of Genomic Pediatrics, and Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary V.","family":"Relling","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Pharmaceutical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyrine E.","family":"Haidar","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Pharmaceutical Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,10,22]]},"reference":[{"key":"R1-20250808","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.bcmd.2008.12.005","article-title":"The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.","volume":"42","author":"Nkhoma","year":"2009","journal-title":"Blood Cells Mol Dis"},{"key":"R2-20250808","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S0140-6736(08)60073-2","article-title":"Glucose-6-phosphate dehydrogenase deficiency.","volume":"371","author":"Cappellini","year":"2008","journal-title":"Lancet"},{"key":"R3-20250808","first-page":"601","article-title":"Glucose-6-phosphate dehydrogenase deficiency.","volume":"67","year":"1989","journal-title":"Bull World Health Organ"},{"key":"R4-20250808","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/s41397-018-0043-3","article-title":"Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.","volume":"19","author":"Robinson","year":"2019","journal-title":"Pharmacogenomics J"},{"key":"R5-20250808","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/clpt.2014.97","article-title":"Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.","volume":"96","author":"Relling","year":"2014","journal-title":"Clin Pharmacol Ther"},{"key":"R6-20250808","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1186\/1475-2875-12-391","article-title":"G6PD testing in support of treatment and elimination of malaria: recommendations for evaluation of G6PD tests.","volume":"12","author":"Domingo","year":"2013","journal-title":"Malar J"},{"key":"R7-20250808","first-page":"259","article-title":"Determination of glucose-6-phosphate dehydrogenase levels in red cell preparations.","volume":"49","author":"Echler","year":"1983","journal-title":"Am J Med Technol"},{"key":"R8-20250808","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/j.1365-2141.1989.tb07730.x","article-title":"On the diagnosis of erythrocyte enzyme defects in the presence of high reticulocyte counts.","volume":"72","author":"Lakomek","year":"1989","journal-title":"Br J Haematol"},{"key":"R9-20250808","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1182\/blood.V58.3.642.642","article-title":"The interference of leukocytes and platelets with measurement of clucose-6-phosphate dehydrogenase activity of erythrocytes with low activity variants of the enzyme.","volume":"58","author":"Morelli","year":"1981","journal-title":"Blood"},{"key":"R10-20250808","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1182\/blood.2019000944","article-title":"Glucose-6-phosphate dehydrogenase deficiency.","volume":"136","author":"Luzzatto","year":"2020","journal-title":"Blood"},{"key":"R11-20250808","doi-asserted-by":"crossref","first-page":"e27681","DOI":"10.1002\/pbc.27681","article-title":"No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy.","volume":"66","author":"Robinson","year":"2019","journal-title":"Pediatr Blood Cancer"},{"key":"R12-20250808","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/0076-6879(55)01046-X","article-title":"Glucose-6-phosphate dehydrogenase.","volume":"1","author":"Kornberg","year":"1955","journal-title":"IN Methods Enzymol"},{"key":"R13-20250808","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/B978-0-12-091302-2.50026-8","article-title":"Glucose-6-phosphate dehydrogenase.","volume":"1","author":"Lohr","year":"1974","journal-title":"IN Methods Enzymatic Anal"},{"key":"R14-20250808","first-page":"49","article-title":"Recommendations for the transfusion of red blood cells.","volume":"7","author":"Liumbruno","year":"2009","journal-title":"Blood Transfus"},{"key":"R15-20250808","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.c.31391","article-title":"PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics.","volume":"166C","author":"Hoffman","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R16-20250808","first-page":"1","article-title":"Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group.","volume":"366","year":"1967","journal-title":"World Health Organ Tech Rep Ser"},{"key":"R17-20250808","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.bcmd.2012.01.001","article-title":"Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the \u201cold\u201d and update of the new mutations.","volume":"48","author":"Minucci","year":"2012","journal-title":"Blood Cells Mol Dis"},{"key":"R18-20250808","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/hmg\/1.3.171","article-title":"Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.","volume":"1","author":"Town","year":"1992","journal-title":"Hum Mol Genet"},{"key":"R19-20250808","doi-asserted-by":"crossref","first-page":"713","DOI":"10.2165\/11536520-000000000-00000","article-title":"Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.","volume":"33","author":"Youngster","year":"2010","journal-title":"Drug Saf"},{"key":"R20-20250808","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/bjh.12665","article-title":"G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications.","volume":"164","author":"Luzzatto","year":"2014","journal-title":"Br J Haematol"},{"key":"R22-20250808","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s12859-014-0418-7","article-title":"Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations.","volume":"16","author":"Bansal","year":"2015","journal-title":"BMC Bioinformatics"},{"key":"R23-20250808","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/clpt.2013.229","article-title":"Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing.","volume":"95","author":"Van Driest","year":"2014","journal-title":"Clin Pharmacol Ther"}],"container-title":["Pharmacogenetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/FPC.0000000000000456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T12:01:16Z","timestamp":1754654476000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/FPC.0000000000000456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,22]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.1097\/fpc.0000000000000456","relation":{"has-preprint":[{"id-type":"doi","id":"10.22541\/au.161403397.70149339\/v1","asserted-by":"object"}]},"ISSN":["1744-6872"],"issn-type":[{"value":"1744-6872","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10,22]]}}}