{ "schemaVersion": 2, "eyebrow": "Hematology", "title": "Glucose-6-Phosphate Dehydrogenase Deficiency", "summary": "G6PD deficiency is an X-linked red-cell enzymopathy in which oxidative infection, drugs, or fava beans can precipitate hemolysis; clinical care hinges on confirming enzyme deficiency, recognizing assay limitations, stopping exposures, treating the trigger, and preventing high-risk drug administration.", "seoDescription": "Point-of-care approach to G6PD deficiency: diagnostic enzyme testing, hemolysis assessment, neonatal jaundice risk, drug precautions, and antimalarial decisions.", "clinicalQuestion": "How should clinicians confirm, manage, and prevent hemolysis in patients with suspected or known G6PD deficiency?", "specialty": "Hematology", "audience": "U.S. physicians and medical trainees", "tags": [ "G6PD deficiency", "acute hemolytic anemia", "oxidant drugs", "primaquine", "tafenoquine", "neonatal hyperbilirubinemia", "rasburicase" ], "keyTakeaways": [ "Order a G6PD enzyme assay when acute nonimmune hemolysis follows infection, oxidant medication exposure, or fava-bean ingestion; smear review and blood testing support the diagnosis. [2][8][12]", "A normal or near-normal G6PD result during an acute hemolytic episode does not necessarily exclude deficiency, because the most enzyme-deficient erythrocytes may have been destroyed; repeat phenotypic testing after recovery when suspicion remains. [18]", "Before prescribing primaquine or tafenoquine, document G6PD status; tafenoquine is contraindicated with deficient or unknown status because of hemolytic-anemia risk. [1][3]", "Rasburicase is contraindicated in G6PD deficiency because it can cause hemolytic anemia and methemoglobinemia. [24]", "In neonates, G6PD deficiency increases risk for severe indirect hyperbilirubinemia and kernicterus; bilirubin surveillance should not rely on anemia or routine hemolysis indices alone. [7][13][22]" ], "sections": [ { "id": "acute-hemolysis-triage", "eyebrow": "Immediate management", "heading": "Approach to acute hemolysis in a patient with possible G6PD deficiency", "intro": "Act on the hemolytic syndrome and exposure history before definitive enzyme confirmation.", "paragraphs": [ "Suspect G6PD-related hemolysis when acute anemia or jaundice follows an intercurrent infection, an oxidative medication, fava-bean ingestion, henna exposure, or another acute oxidative stressor. G6PD deficiency causes nonimmune hemolytic anemia because impaired red-cell antioxidant capacity increases susceptibility to oxidative injury. [2][8][12][22]", "Immediately stop a suspected oxidant exposure and identify and treat the precipitating infection or acute illness. Obtain a CBC with hemoglobin, reticulocyte count, bilirubin fractions, lactate dehydrogenase, haptoglobin, creatinine, urinalysis, and peripheral smear review to establish hemolysis severity and detect complications such as hemoglobinuria or kidney injury. G6PD-associated episodes may be clinically significant enough to produce severe hyperbilirubinemia and renal failure. [2][16]", "Use direct antiglobulin testing when the presentation could represent immune hemolysis rather than an oxidant episode. Persistent anemia after trigger removal, marked splenomegaly, multilineage cytopenias, or an atypical smear should redirect the evaluation toward concurrent hemolytic, marrow, hepatic, infectious, or inherited red-cell disease rather than attributing all anemia to G6PD deficiency. Coexisting disorders can independently contribute to anemia and cytopenias. [12]" ], "bullets": [ "Document the exact medication, start date, dose, and timing of hemolysis; drug-associated episodes may occur with antimalarials, antibiotics, anti-inflammatory agents, and other oxidant exposures. [12][22]", "Ask specifically about fava beans and henna, which are recognized nonpharmacologic oxidative precipitants. [8][22]", "Escalate care for rapidly falling hemoglobin, severe hyperbilirubinemia, hemoglobinuria, oliguria, or suspected methemoglobinemia; these findings indicate a potentially severe oxidant reaction. [16][24]" ], "subsections": [], "table": { "caption": "Exposure-directed actions in suspected G6PD-related oxidative hemolysis. [1][8][12][22][24]", "columns": [ "Clinical branch", "Key discriminator", "Immediate action" ], "rows": [ [ "Infection-associated episode", "Acute illness temporally associated with anemia, jaundice, or hemoglobinuria. [2][12][22]", "Evaluate and treat the infection while measuring hemolysis and renal parameters; avoid adding oxidant drugs when alternatives are available. [2][12]" ], [ "Drug-associated episode", "Hemolysis begins after an oxidative medication, particularly an 8-aminoquinoline antimalarial or other implicated drug exposure. [1][3][12][22]", "Stop the suspected agent, document the reaction, and obtain confirmatory G6PD testing after the acute episode if needed. [1][2][18]" ], [ "Rasburicase exposure", "Hemolysis or methemoglobinemia after rasburicase. [24]", "Do not administer further rasburicase; treat as a high-risk oxidant reaction and evaluate for methemoglobinemia and hemolysis. [24]" ], [ "Food or chemical exposure", "Fava-bean ingestion or henna exposure precedes hemolysis. [8][22]", "Remove exposure, treat the hemolytic episode, and provide written avoidance counseling after recovery. [2][8]" ] ] } }, { "id": "confirming-diagnosis", "eyebrow": "Diagnostic testing", "heading": "Confirm deficiency without misreading the enzyme assay", "intro": "Phenotypic enzyme testing is the core diagnostic test, but timing and sex-linked mosaicism affect interpretation.", "paragraphs": [ "Confirm suspected disease with a blood-based G6PD enzyme activity assay and peripheral-smear review. In routine practice, the diagnosis is made from blood testing that includes smear examination and a specific enzyme assay. [2]", "Interpret enzyme activity in the clinical context. During or shortly after hemolysis, selective destruction of the most deficient erythrocytes can leave younger circulating cells with relatively higher activity, producing a falsely reassuring phenotypic result. If clinical suspicion remains high after a normal acute-phase test, repeat enzyme activity testing after hematologic recovery. [18]", "Do not use a limited genotyping panel as the sole exclusion test when the clinical question is functional deficiency, particularly in heterozygous females. X-inactivation creates a wide range of normal-to-deficient erythrocyte proportions, so genotype does not reliably predict the degree of enzyme deficiency in heterozygotes; phenotypic testing is therefore more informative for functional risk in this group. [18]", "Laboratory cutoffs are assay-, age-, and population-dependent. Published newborn screening programs have used a fluorescent spot test followed by quantitative enzyme testing for reduced activity, but a threshold from one laboratory should not be transferred to another laboratory's assay. [9]" ], "bullets": [ "Record recent transfusion and timing of the hemolytic event when ordering or interpreting enzyme activity, because circulating donor or young erythrocytes can alter the measured phenotype. [18]", "Use genotyping as an adjunct when variant identification is needed, but recognize that an untested or unusual mutation may be missed. [18]", "In a symptomatic female with a nondiagnostic genotype, prioritize quantitative enzyme phenotype rather than assuming carrier status is clinically silent. [18]" ], "subsections": [ { "heading": "When to test", "paragraphs": [ "Test patients with otherwise unexplained acute nonimmune hemolysis after infection, fava beans, or an oxidative drug; test before prescribing 8-aminoquinoline antimalarial therapy; and evaluate neonates with clinically significant indirect hyperbilirubinemia when G6PD deficiency is plausible. [1][2][7][8][22]" ], "bullets": [] } ], "table": { "caption": "Interpretation pitfalls in G6PD assessment. [9][18]", "columns": [ "Situation", "Interpretive risk", "Next step" ], "rows": [ [ "Acute hemolysis", "Measured activity may be falsely reassuring after preferential loss of the most deficient erythrocytes. [18]", "Repeat quantitative enzyme testing after recovery if pretest probability remains high. [18]" ], [ "Heterozygous female", "Genotype does not predict functional enzyme deficiency because X-inactivation yields variable proportions of deficient erythrocytes. [18]", "Use a phenotypic enzyme assay to assess functional deficiency. [18]" ], [ "Reduced newborn screening result", "Screening identifies infants requiring confirmatory evaluation but does not replace quantitative assessment. [9]", "Confirm with quantitative enzyme testing and/or mutation analysis according to the screening pathway. [9]" ] ] } }, { "id": "prevention-and-medication-safety", "eyebrow": "Prevention", "heading": "Prevent avoidable oxidant hemolysis", "intro": "The highest-value intervention is durable documentation of deficiency and avoidance of known high-risk exposures.", "paragraphs": [ "After confirmed deficiency, place G6PD deficiency and any implicated drug reaction prominently in the medication record, counsel the patient to avoid oxidative triggers, and provide a written exposure plan. Most individuals remain asymptomatic unless exposed to infection, fava beans, or oxidative medications; prevention therefore centers on anticipatory avoidance rather than chronic treatment. [2][8]", "For malaria radical cure or prophylaxis decisions, do not prescribe tafenoquine unless G6PD testing has documented acceptable status. FDA labeling states that all patients must be tested before tafenoquine initiation and lists G6PD deficiency or unknown G6PD status as contraindications because of hemolytic-anemia risk. [1]", "Primaquine also carries a clinically important hemolysis risk in G6PD deficiency. Severe G6PD deficiency is a contraindication; when primaquine is considered in mild to moderate deficiency, FDA-linked labeling requires individualized risk-benefit assessment, baseline hemoglobin and hematocrit, and close hematologic monitoring including assessment at day 3 and day 8. [1]", "Avoid rasburicase in known G6PD deficiency. The drug is contraindicated because hemolytic anemia and methemoglobinemia can occur; a patient with unknown status who is likely to require rasburicase should undergo G6PD assessment before exposure when clinical circumstances permit. [24]" ], "bullets": [ "Before tafenoquine: verify and document G6PD status; deficient or unknown status is a contraindication. [1]", "Before primaquine: verify G6PD status; do not use in severe deficiency. [1]", "If primaquine is used despite mild to moderate deficiency: obtain baseline hemoglobin and hematocrit and monitor hematologically at day 3 and day 8. [1]", "During primaquine monitoring: stop and urgently evaluate dark urine or a marked fall in hemoglobin or erythrocyte count as possible hemolysis. [1]" ], "subsections": [], "table": { "caption": "High-consequence medication decisions in G6PD deficiency. [1][3][24]", "columns": [ "Agent", "G6PD decision", "Required safeguard" ], "rows": [ [ "Tafenoquine", "Contraindicated with G6PD deficiency or unknown G6PD status. [1]", "Test all patients before initiation. [1]" ], [ "Primaquine", "Do not prescribe for severe deficiency; mild to moderate deficiency requires individualized risk-benefit assessment. [1]", "Obtain baseline hemoglobin and hematocrit; monitor hematologically at day 3 and day 8 if treatment is undertaken. [1]" ], [ "Rasburicase", "Contraindicated in G6PD deficiency. [24]", "Avoid because hemolytic anemia and methemoglobinemia may occur. [24]" ] ] } }, { "id": "neonatal-hyperbilirubinemia", "eyebrow": "Newborn care", "heading": "Treat G6PD deficiency as a bilirubin risk factor in neonates", "intro": "Neonatal jaundice may be the first manifestation and can be severe despite limited hematologic evidence of hemolysis.", "paragraphs": [ "In a neonate with significant indirect hyperbilirubinemia, include G6PD deficiency in the etiologic evaluation, particularly when ancestry, family history, an affected sibling, or an unexplained bilirubin trajectory raises suspicion. G6PD deficiency is associated with neonatal jaundice, bilirubin encephalopathy, and severe hyperbilirubinemia that can cause kernicterus if not recognized. [7][8][13][22]", "Do not dismiss G6PD deficiency because hemoglobin, reticulocyte count, or other routine hematologic indices do not show striking hemolysis. In G6PD-deficient neonates with severe hyperbilirubinemia, standard hematologic indices may correlate poorly with hemolysis, even though hemolysis contributes substantially to pathophysiology. [7]", "Obtain quantitative G6PD testing when the result will alter bilirubin surveillance, exposure counseling, or family risk assessment. Newborn screening may identify infants with reduced activity, but confirmatory quantitative enzyme testing and, when used, mutation analysis are needed to characterize the result. [7][9]" ], "bullets": [ "Use serial bilirubin assessment and timely jaundice-directed treatment rather than waiting for overt anemia in a neonate at risk for G6PD deficiency. [7][22]", "At discharge, document G6PD status or pending evaluation and reinforce prompt reassessment for worsening jaundice. Severe neonatal hyperbilirubinemia can progress to kernicterus. [7][22]" ], "subsections": [], "table": { "caption": "Neonatal clues that should prompt consideration of G6PD testing. [7][8][13][22]", "columns": [ "Finding", "Clinical interpretation", "Action" ], "rows": [ [ "Significant indirect hyperbilirubinemia", "G6PD deficiency is associated with severe jaundice and bilirubin encephalopathy risk. [7][8][13]", "Assess bilirubin trajectory and obtain G6PD testing when clinically indicated. [7][22]" ], [ "Severe jaundice with limited anemia or routine hemolysis findings", "Hematologic indices may not reliably reflect hemolysis in affected neonates. [7]", "Continue bilirubin-focused surveillance; do not exclude G6PD deficiency on this basis. [7]" ], [ "Positive or reduced-activity newborn screen", "Screening requires confirmatory phenotypic and/or molecular evaluation. [9]", "Arrange quantitative enzyme confirmation and document results for future drug safety. [9]" ] ] } }, { "id": "longitudinal-care", "eyebrow": "Follow-up", "heading": "Longitudinal documentation and referral decisions", "intro": "Most patients need preventive care rather than chronic hematologic therapy.", "paragraphs": [ "For patients with confirmed deficiency and no ongoing hemolysis, focus follow-up on exposure avoidance, medication reconciliation before new prescriptions, and recognition of recurrent hemolysis. Most affected individuals are asymptomatic for most or all of life, with episodes triggered by oxidative stress rather than a continuously active disease process. [2][8]", "Refer to hematology when enzyme results remain discordant with a convincing clinical phenotype, when recurrent hemolysis occurs without a clear exposure, when chronic hemolysis is suspected, or when a specialized phenotypic/genotypic interpretation is needed in a heterozygous female. Genotype-phenotype discordance is especially relevant in females because X-inactivation makes genotype an unreliable predictor of red-cell functional deficiency. [18]", "For a patient who may require an 8-aminoquinoline antimalarial, coordinate testing and treatment planning before travel or malaria therapy rather than addressing G6PD status after exposure. The safety requirements for tafenoquine and the monitoring requirements for selected primaquine use make pre-treatment planning clinically consequential. [1][3]" ], "bullets": [ "Reconcile G6PD status before prescribing medications with potential oxidant risk and before administering rasburicase. [1][24]", "Document prior hemolysis triggers, including drug name and fava-bean or henna exposure, because prevention depends on trigger-specific avoidance. [8][12][22]", "Counsel family members that the disorder is X-linked; female relatives may have clinically meaningful phenotypic deficiency despite variable genotype-phenotype correlation. [2][18]" ], "subsections": [], "table": { "caption": "Follow-up actions after a confirmed G6PD deficiency diagnosis. [1][2][8][18][24]", "columns": [ "Care task", "When", "Purpose" ], "rows": [ [ "Update problem list and adverse-drug record", "At diagnosis and after any hemolytic episode. [2][8]", "Prevent repeat exposure to recognized oxidant triggers. [2][8]" ], [ "Medication review", "Before new prescriptions and before antimalarial or rasburicase treatment. [1][24]", "Avoid contraindicated or high-risk oxidant agents. [1][24]" ], [ "Repeat phenotypic testing", "After recovery when acute-phase testing was normal but suspicion remains high. [18]", "Address false reassurance caused by selective destruction of deficient erythrocytes. [18]" ], [ "Hematology referral", "Discordant results, recurrent unexplained hemolysis, chronic hemolysis, or complex female phenotype. [18]", "Clarify alternate or coexisting causes and functional deficiency risk. [18]" ] ] } } ], "faq": [], "references": [ { "number": 1, "title": "Table of Pharmacogenomic Biomarkers in Drug Labeling", "detail": "www.fda.gov", "url": "https://www.fda.gov/media/122407/download", "authors": "www.fda.gov", "host": "www.fda.gov" }, { "number": 2, "title": "Glucose-6-phosphate dehydrogenase deficiency - Symptoms, diagnosis and treatment | BMJ Best Practice US", "detail": "bestpractice.bmj.com", "url": "https://bestpractice.bmj.com/topics/en-us/704", "authors": "bestpractice.bmj.com", "host": "bestpractice.bmj.com" }, { "number": 3, "title": "Tafenoquine versus Primaquine to Prevent Relapse ...", "detail": "www.nejm.org", "url": "https://www.nejm.org/doi/full/10.1056/NEJMoa1802537", "authors": "www.nejm.org", "host": "www.nejm.org" }, { "number": 4, "title": "Glucose-6-phosphate dehydrogenase deficiency among ...", "detail": "www.cell.com", "url": "https://www.cell.com/heliyon/fulltext/S2405-8440(23)05645-1", "authors": "www.cell.com", "host": "www.cell.com" }, { "number": 5, "title": "Journal Pre-proof", "detail": "www.cell.com", "url": "https://www.cell.com/heliyon/pdf/S2405-8440(23)05645-1.pdf", "authors": "www.cell.com", "host": "www.cell.com" }, { "number": 6, "title": "G6PDcat.pdf - UW Departments Web Server", "detail": "www.cell.com", "url": "https://www.cell.com/ajhg/pdf/S0002-9297(23)00003-4.pdf", "authors": "www.cell.com", "host": "www.cell.com" }, { "number": 7, "title": "Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies | Journal of Perinatology", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41372-024-01927-1", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 8, "title": "Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution | Scientific Reports", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41598-020-74200-y", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 9, "title": "Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates | Scientific Reports", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41598-017-17667-6", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 10, "title": "Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine", "detail": "www.nature.com", "url": "https://www.nature.com/articles/gim2017172", "authors": "www.nature.com", "host": "www.nature.com" }, { "number": 11, "title": "Glucose-6-Phosphate Dehydrogenase Deficiency - an overview | ScienceDirect Topics", "detail": "www.sciencedirect.com", "url": "https://www.sciencedirect.com/topics/medicine-and-dentistry/glucose-6-phosphate-dehydrogenase-deficiency", "authors": "www.sciencedirect.com", "host": "www.sciencedirect.com" }, { "number": 12, "title": "Glucose-6-phosphate dehydrogenase deficiency with... : Indian Journal of Pathology and Microbiology", "detail": "journals.lww.com", "url": "https://journals.lww.com/ijpm/fulltext/2024/67020/glucose_6_phosphate_dehydrogenase_deficiency_with.41.aspx", "authors": "journals.lww.com", "host": "journals.lww.com" }, { "number": 13, "title": "Glucose-6-Phosphate Dehydrogenase Deficiency and Borderline Deficiency: Association with Neonatal Hyperbilirubinemia - ScienceDirect", "detail": "www.sciencedirect.com", "url": "https://www.sciencedirect.com/science/article/pii/S0022347612001710", "authors": "www.sciencedirect.com", "host": "www.sciencedirect.com" }, { "number": 14, "title": "Presented Abstracts from the Thirty First Annual Education ...", "detail": "onlinelibrary.wiley.com", "url": "https://onlinelibrary.wiley.com/doi/10.1007/s10897-012-9534-6", "authors": "onlinelibrary.wiley.com", "host": "onlinelibrary.wiley.com" }, { "number": 15, "title": "Severe deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5439134)\n - MedGen - NCBI", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/medgen/1743695", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov" }, { "number": 16, "title": "Glucose-6-phosphate dehydrogenase deficiency - PMC", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2398001", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov" }, { "number": 17, "title": "Moderate deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5437054)\n - MedGen - NCBI", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/medgen/1752272", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov" }, { "number": 18, "title": "Glucose-6-phosphate dehydrogenase deficiency | Blood | American Society of Hematology", "detail": "ashpublications.org", "url": "https://ashpublications.org/blood/article-abstract/136/11/1225/461549/Glucose-6-phosphate-dehydrogenase-deficiency?redirectedFrom=fulltext", "authors": "ashpublications.org", "host": "ashpublications.org" }, { "number": 19, "title": "1330-P: Glucose-6-Phosphate Dehydrogenase Deficiency ...", "detail": "diabetesjournals.org", "url": "https://diabetesjournals.org/diabetes/article/74/Supplement_1/1330-P/159808/1330-P-Glucose-6-Phosphate-Dehydrogenase", "authors": "diabetesjournals.org", "host": "diabetesjournals.org" }, { "number": 20, "title": "Glucose-6-phosphate dehydrogenase (G6PD) deficiency ...", "detail": "stacks.cdc.gov", "url": "https://stacks.cdc.gov/view/cdc/60914/cdc_60914_DS1.pdf", "authors": "stacks.cdc.gov", "host": "stacks.cdc.gov" }, { "number": 21, "title": "Field Trial Evaluation of the Performances of Point-of-Care ...", "detail": "stacks.cdc.gov", "url": "https://stacks.cdc.gov/view/cdc/26527/cdc_26527_DS1.pdf", "authors": "stacks.cdc.gov", "host": "stacks.cdc.gov" }, { "number": 22, "title": "Evaluation of a diagnostic to identify G6PD deficiency in ...", "detail": "cdn.clinicaltrials.gov", "url": "https://cdn.clinicaltrials.gov/large-docs/40/NCT04033640/Prot_SAP_000.pdf", "authors": "cdn.clinicaltrials.gov", "host": "cdn.clinicaltrials.gov" }, { "number": 23, "title": "Severe glucose-6-phosphate dehydrogenase deficiency ...", "detail": "www.jacionline.org", "url": "https://www.jacionline.org/article/S0091-6749(16)30435-3/fulltext", "authors": "www.jacionline.org", "host": "www.jacionline.org" }, { "number": 24, "title": "Rasburicase-induced haemolysis and methemoglobinemia", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC7970208", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov" } ], "editorialNote": "Prepared from cited clinical literature using Astra's research workflow. Verify recommendations against current guidance and patient-specific factors.", "citations": [ { "number": 1, "title": "Table of Pharmacogenomic Biomarkers in Drug Labeling", "detail": "www.fda.gov", "url": "https://www.fda.gov/media/122407/download", "authors": "www.fda.gov", "host": "www.fda.gov", "snippet": "210607, 08/08/2018 Tafenoquine Infectious Diseases G6PD Dosage and Administration, Contraindications, Warnings and Precautions, Use in Specific Populations, Patient Counseling Information 2 DOSAGE AND ADMINISTRATION 2.1 Tests to be Performed Prior to ARAKODA Dose Initiation All patients must be test", "score": 0.57293844 }, { "number": 2, "title": "Glucose-6-phosphate dehydrogenase deficiency - Symptoms, diagnosis and treatment | BMJ Best Practice US", "detail": "bestpractice.bmj.com", "url": "https://bestpractice.bmj.com/topics/en-us/704", "authors": "bestpractice.bmj.com", "host": "bestpractice.bmj.com", "snippet": "##### Peer reviewer acknowledgements\n\nBMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.\n\n###### Disclosures\n\nPeer reviewer affiliations an", "score": 0.7557276 }, { "number": 3, "title": "Tafenoquine versus Primaquine to Prevent Relapse ...", "detail": "www.nejm.org", "url": "https://www.nejm.org/doi/full/10.1056/NEJMoa1802537", "authors": "www.nejm.org", "host": "www.nejm.org", "snippet": "by A Llanos-Cuentas · 2019 · Cited by 278 — Both primaquine and tafenoquine cause drug-induced hemolysis in persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency. This X-linked", "score": 0.5221784 }, { "number": 4, "title": "Glucose-6-phosphate dehydrogenase deficiency among ...", "detail": "www.cell.com", "url": "https://www.cell.com/heliyon/fulltext/S2405-8440(23)05645-1", "authors": "www.cell.com", "host": "www.cell.com", "snippet": "by W Kassahun · 2023 · Cited by 15 — As G6PD deficiency is a genetic mutation, the current clinical treatment approaches can only alleviate the suffering and complications.", "score": 0.65887916 }, { "number": 5, "title": "Journal Pre-proof", "detail": "www.cell.com", "url": "https://www.cell.com/heliyon/pdf/S2405-8440(23)05645-1.pdf", "authors": "www.cell.com", "host": "www.cell.com", "snippet": "by W Kassahun · 2023 · Cited by 14 — Glucose-6-phosphate dehydrogenase deficiency: A review glucose-6-phosphate. 352 dehydrogenase. University of Hong Kong. 2013. 353. Journal Pre", "score": 0.5079833 }, { "number": 6, "title": "G6PDcat.pdf - UW Departments Web Server", "detail": "www.cell.com", "url": "https://www.cell.com/ajhg/pdf/S0002-9297(23)00003-4.pdf", "authors": "www.cell.com", "host": "www.cell.com", "snippet": "by RC Geck · 2023 · Cited by 48 — Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 500 million individuals who can experience anemia in response to.Read more", "score": 0.3804832 }, { "number": 7, "title": "Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies | Journal of Perinatology", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41372-024-01927-1", "authors": "www.nature.com", "host": "www.nature.com", "snippet": ". G6PD enzyme activity is an essential component in protecting red blood cells against oxidative stress, and deficiency results in intravascular hemolysis and associated complications . Over 200 G6PD variants have been described based on the genetic mutations associated with the X-linked recessive g", "score": 0.783542 }, { "number": 8, "title": "Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution | Scientific Reports", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41598-020-74200-y", "authors": "www.nature.com", "host": "www.nature.com", "snippet": "For all subjects with G6PD deficiency, the means and standard deviations, as well as the ranges of enzyme activities for various types of deficiency variants and non-variants, were presented in Table 2. In the hemizygous group, enzyme activity was very low, ranging from 0.01 to 4.16 IU/g Hb, whereas", "score": 0.6708892 }, { "number": 9, "title": "Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates | Scientific Reports", "detail": "www.nature.com", "url": "https://www.nature.com/articles/s41598-017-17667-6", "authors": "www.nature.com", "host": "www.nature.com", "snippet": "## Results\n\n### Analysis of G6PD activities\n\nAmong the 130,635 newborns (71511 males and 59124 females) screened for G6PD enzyme activity using fluorescent spot-test (FST), a total of 9583 cases (7832 males and 1751 females) were suspected as G6PD deficiency. The positive rate of initial screening w", "score": 0.6638657 }, { "number": 10, "title": "Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine", "detail": "www.nature.com", "url": "https://www.nature.com/articles/gim2017172", "authors": "www.nature.com", "host": "www.nature.com", "snippet": "screening results particularly in the summer. Because the Duarte (D2) allele also reduces enzyme stability, there may be a higher detection rate of DG galactosemia cases in the summer. To increase screening specificity, some programs perform a second-tier DNA test for enzyme or metabolite-positive c", "score": 0.5874941 }, { "number": 11, "title": "Glucose-6-Phosphate Dehydrogenase Deficiency - an overview | ScienceDirect Topics", "detail": "www.sciencedirect.com", "url": "https://www.sciencedirect.com/topics/medicine-and-dentistry/glucose-6-phosphate-dehydrogenase-deficiency", "authors": "www.sciencedirect.com", "host": "www.sciencedirect.com", "snippet": "Title: Glucose-6-Phosphate Dehydrogenase Deficiency - an overview | ScienceDirect Topics\n# Glucose-6-Phosphate Dehydrogenase Deficiency. ### Glucose-6-Phosphate Dehydrogenase Deficiency. ### Glucose-6-Phosphate Dehydrogenase Deficiency. Glucose-6-phosphate dehydrogenase deficiency caused by an inher", "score": 0.534443 }, { "number": 12, "title": "Glucose-6-phosphate dehydrogenase deficiency with... : Indian Journal of Pathology and Microbiology", "detail": "journals.lww.com", "url": "https://journals.lww.com/ijpm/fulltext/2024/67020/glucose_6_phosphate_dehydrogenase_deficiency_with.41.aspx", "authors": "journals.lww.com", "host": "journals.lww.com", "snippet": "Title: Glucose-6-phosphate dehydrogenase deficiency with... : Indian Journal of Pathology and Microbiology\n# Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association. Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes", "score": 0.3962089 }, { "number": 13, "title": "Glucose-6-Phosphate Dehydrogenase Deficiency and Borderline Deficiency: Association with Neonatal Hyperbilirubinemia - ScienceDirect", "detail": "www.sciencedirect.com", "url": "https://www.sciencedirect.com/science/article/pii/S0022347612001710", "authors": "www.sciencedirect.com", "host": "www.sciencedirect.com", "snippet": "# Original Article Glucose-6-Phosphate Dehydrogenase Deficiency and Borderline Deficiency: Association with Neonatal Hyperbilirubinemia. To characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its association with neonatal hyperbilirubinemia. Mean G6PD activity was ", "score": 0.38421932 }, { "number": 14, "title": "Presented Abstracts from the Thirty First Annual Education ...", "detail": "onlinelibrary.wiley.com", "url": "https://onlinelibrary.wiley.com/doi/10.1007/s10897-012-9534-6", "authors": "onlinelibrary.wiley.com", "host": "onlinelibrary.wiley.com", "snippet": "Glucose-6-phosphate deficiency (G6PD) is an X-linked enzyme deficiency commonly manifests as food-induced or drug-induced acute hemolytic anemia", "score": 0.2903622 }, { "number": 15, "title": "Severe deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5439134)\n - MedGen - NCBI", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/medgen/1743695", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "Title: Severe deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5439134)\n - MedGen - NCBI\nThe NCBI web site requires JavaScript to function. An official website of the United States government. **The .gov means it's official.**. Federal government websites often end in .gov or .mil. shar", "score": 0.71185225 }, { "number": 16, "title": "Glucose-6-phosphate dehydrogenase deficiency - PMC", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2398001", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "# Glucose-6-phosphate dehydrogenase deficiency. See letter \"Glucose-6-phosphate dehydrogenase deficiency.\" in volume 71 on page 765. K. Acute viral hepatitis, intravascular haemolysis, severe hyperbilirubinaemia and renal failure in glucose-6-phosphate dehydrogenase deficient patients. R. Glucose-6-", "score": 0.6937432 }, { "number": 17, "title": "Moderate deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5437054)\n - MedGen - NCBI", "detail": "www.ncbi.nlm.nih.gov", "url": "https://www.ncbi.nlm.nih.gov/medgen/1752272", "authors": "www.ncbi.nlm.nih.gov", "host": "www.ncbi.nlm.nih.gov", "snippet": "Title: Moderate deficiency of glucose-6-phosphate dehydrogenase (Concept Id: C5437054)\n - MedGen - NCBI\nThe NCBI web site requires JavaScript to function. An official website of the United States government. **The .gov means it's official.**. Federal government websites often end in .gov or .mil. sh", "score": 0.68191797 }, { "number": 18, "title": "Glucose-6-phosphate dehydrogenase deficiency | Blood | American Society of Hematology", "detail": "ashpublications.org", "url": "https://ashpublications.org/blood/article-abstract/136/11/1225/461549/Glucose-6-phosphate-dehydrogenase-deficiency?redirectedFrom=fulltext", "authors": "ashpublications.org", "host": "ashpublications.org", "snippet": "Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest human enzymopathies, caused by inherited mutations of the X-linked gene *G6PD*. Among inborn errors of metabolism, the phrase by which inherited disorders were formerly known, glucose-6-phosphate dehydrogenase (G6PD) deficienc", "score": 0.50856906 }, { "number": 19, "title": "1330-P: Glucose-6-Phosphate Dehydrogenase Deficiency ...", "detail": "diabetesjournals.org", "url": "https://diabetesjournals.org/diabetes/article/74/Supplement_1/1330-P/159808/1330-P-Glucose-6-Phosphate-Dehydrogenase", "authors": "diabetesjournals.org", "host": "diabetesjournals.org", "snippet": "Jun 20, 2025 — Conclusion: G6PD-D lowered A1C levels by 0.9%. These falsely low A1C levels could lead to late diagnosis of AbnlGT and complications. Overall, ...Read more", "score": 0.49670476 }, { "number": 20, "title": "Glucose-6-phosphate dehydrogenase (G6PD) deficiency ...", "detail": "stacks.cdc.gov", "url": "https://stacks.cdc.gov/view/cdc/60914/cdc_60914_DS1.pdf", "authors": "stacks.cdc.gov", "host": "stacks.cdc.gov", "snippet": "Oct 20, 2018 — Determining the G6PD prevalence, distribution and variants can inform the Federal Ministry of Health's deci- sion to adopt new policies to ...Read more", "score": 0.37236878 }, { "number": 21, "title": "Field Trial Evaluation of the Performances of Point-of-Care ...", "detail": "stacks.cdc.gov", "url": "https://stacks.cdc.gov/view/cdc/26527/cdc_26527_DS1.pdf", "authors": "stacks.cdc.gov", "host": "stacks.cdc.gov", "snippet": "by A Roca-Feltrer · 2014 · Cited by 75 — User-friendly, accurate, point-of-care rapid tests to detect glucose-6- phosphate dehydrogenase deficiency (G6PDd) are urgently needed at", "score": 0.35595453 }, { "number": 22, "title": "Evaluation of a diagnostic to identify G6PD deficiency in ...", "detail": "cdn.clinicaltrials.gov", "url": "https://cdn.clinicaltrials.gov/large-docs/40/NCT04033640/Prot_SAP_000.pdf", "authors": "cdn.clinicaltrials.gov", "host": "cdn.clinicaltrials.gov", "snippet": "the reduced form of nicotinamide adenine dinucleotide phosphate [1][2]. The most common human enzyme defect is G6PD deficiency, which affects more than 400 million people worldwide [3][4]. Red blood cells are especially vulnerable to the effects of these mutations because they cannot replenish their ", "score": 0.67706895 }, { "number": 23, "title": "Severe glucose-6-phosphate dehydrogenase deficiency ...", "detail": "www.jacionline.org", "url": "https://www.jacionline.org/article/S0091-6749(16)30435-3/fulltext", "authors": "www.jacionline.org", "host": "www.jacionline.org", "snippet": "by U Siler · 2017 · Cited by 94 — Determining the level of G6PD enzyme activity should be followed by analysis of reactive oxygen species production and NET formation to decide on required", "score": 0.44217938 }, { "number": 24, "title": "Rasburicase-induced haemolysis and methemoglobinemia", "detail": "pmc.ncbi.nlm.nih.gov", "url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC7970208", "authors": "pmc.ncbi.nlm.nih.gov", "host": "pmc.ncbi.nlm.nih.gov", "snippet": "by L Madanat · 2021 · Cited by 4 — Rasburicase is contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. · Haemolytic anaemia and methemoglobinemia", "score": 0.8282873 } ], "publishedAt": "2026-08-24T18:32:24.053169+00:00", "updatedAt": "2026-08-24T18:32:24.053169+00:00", "readingMinutes": 6, "slug": "glucose-6-phosphate-dehydrogenase-deficiency" }