For those wishing to learn more of the details of the research in this area, this is a list of some of the research papers that were consulted. Where multiple sources were used, we have listed those that are more accessible and contain summaries of the field. Their own bibliographies will allow deeper research.

The easiest way to access these is through the National Library of Medicine’s PubMed database (http://www.ncbi.nlm.nih.gov/pubmed). In order to make it easier for the reader to access any particular reference, we have included the unique PubMed Identifier (PMID) at the end of each citation. If you type that number into the search box and click “search”, you will be taken directly to the abstract of the article. Generally full text can be accessed on the web, but downloading articles for printing may require either an institutional subscription or payment to the publisher.

General

The best way to get an overview of the topic is a chapter in a medical textbook. Although this can be very dense, it will provide a lot of information in one place:

Two useful chapters are to be found in Blood : principles and practice of hematology. [2003] Handin, Robert I; Lux, Samuel E; Stossel, Thomas P. (EDS) 2nd ed. Philadelphia : Lippincott Williams & Wilkins,

Vulliamy, TJ, Luzzato L. : Glucose-6-Phosphate Dehydrogenase Deficiency and Related Disorders; Chapter 54; pp 1921–1950.

Sassa, S, Shibahara, S. : Disorders of Heme Production and Catabolism; Chapter 47: section on Heme Degradation and Bilirubin Formation; pp 1473 – 1486.

Other review articles that are good places to start are:

Beutler, E [2008] Blood 111:16–24; Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. PMID: 18156501

Luzzatto L. [2006] Haematologica. 91:1303–1306; Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype.. PMID: 17018377

Manganelli G, Masullo U, Passarelli S, Filosa S. [2013] Cardiovasc Hematol Disord Drug Targets. 13:73–82; Glucose-6-phosphate dehydrogenase deficiency: disadvantages and possible benefits. PMID: 23534950

Individual Topics

Worldwide distribution:
Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E. [2009] Blood Cells Mol Dis. 42:267–278; The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. PMID: 19233695

Association with malaria:
Cappellini MD, Fiorelli G. [2008] Lancet. 371:64–74; Glucose-6-phosphate dehydrogenase deficiency PMID: 18177777

Number of mutations and distribution:
Mason PJ, Bautista JM, Gilsanz F. [2007] Blood Rev. 21:267–283; G6PD deficiency: the genotype-phenotype association. PMID: 17611006

Mutation database: http://202.120.189.88/mutdb/database.jsp

Mutations affect stability:
Mason PJ, Bautista JM, Gilsanz F. [2007] Blood Rev. 21:267–283; G6PD deficiency: the genotype-phenotype association. PMID: 17611006

Heterozygous females are a genetic mosaic:
Beutler, E [2008] Blood 111:16–24; Glucose-6-phosphate dehydrogenase deficiency: a historical perspective PMID: 18156501

Reclos GJ, Hatzidakis CJ, Schulpis KH. [2000] J Med Screen. 7:46–51; Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. PMID: 10807147

Kaplan M, Hammerman C. [2011] Semin Perinatol. 35:155–161; Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: biochemical versus genetic technologies. PMID: 21641489

Classification of deficiencies:
WHO Working Group [1989] Bulletin of the World Health Organization 67:601–611; Glucose-6-phosphate dehydrogenase deficiency* PMID: 2633878

Drugs that can trigger acute hemolytic attacks:
Beutler, E [2008] Blood 111:16–24; Glucose-6-phosphate dehydrogenase deficiency: a historical perspective PMID: 18156501

WHO Working Group [1989] Bulletin of the World Health Organization 67:601–611; Glucose-6-phosphate dehydrogenase deficiency* PMID: 2633878

Frank JE. [2005] Am Fam Physician. 2005 Oct 1;72(7):1277-82. 72:1277–1282; Diagnosis and management of G6PD deficiency. PMID: 16225031

Cappellini MD, Fiorelli G. [2008] Lancet. 371:64–74; Glucose-6-phosphate dehydrogenase deficiency PMID: 18177777

Manganelli G, Masullo U, Passarelli S, Filosa S. [2013] Cardiovasc Hematol Disord Drug Targets. 13:73–82; Glucose-6-phosphate dehydrogenase deficiency: disadvantages and possible benefits. PMID: 23534950

Incidence of dangerous hyperbilirubinemia:
Bhutani VK [2012] Neoreviews 13:e166–e177; Jaundice Due to Glucose-6-Phosphate Dehydrogenase Deficiency PMID: N/A

Bhutani VK, Johnson L. [2009] J Perinatol. 2p Suppl 1:S20–S24; Kernicterus in the 21st century: frequently asked questions. PMID: 19177056

G6PD deficiency as risk factor for hyperbilirubinemia:
Kaplan M, Hammerman C. [2000] Pediatrics. 106:1478–1479; Glucose-6-phosphate dehydrogenase-deficient neonates: A potential cause for concern in North America. PMID: 11099606

Kaplan M, Hammerman C [2009] J Perinatol. 2009 Feb;29 Suppl 1:S46-52. 29:S46–S52; The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective. PMID: 19177059

Riskin A, Gery N, Kugelman A, Hemo M, Spevak I, Bader D. [2012] J Pediatr. 161:191–196; Glucose-6-phosphate dehydrogenase deficiency and borderline deficiency: association with neonatal hyperbilirubinemia. PMID: 22459229

Pathology and management of hyperbilirubinemia and Kernicterus:
Kaplan M, Muraca M, Hammerman C, Rubaltelli FF, Vilei MT, Vreman HJ, Stevenson DK. [2002] Pediatrics. 110:e47–; Imbalance between production and conjugation of bilirubin: a fundamental concept in the mechanism of neonatal jaundice. PMID: 12359820

American Academy of Pediatrics Subcommittee on Hyperbilirubinemia [2004] Pediatrics. 114:297–316; Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation (CLINICAL PRACTICE GUIDELINE) PMID: 15231951

Keren R1, Bhutani VK, Luan X, Nihtianova S, Cnaan A, Schwartz JS. [2005] Arch Dis Child. 90(4):415–421; Identifying newborns at risk of significant hyperbilirubinaemia: a comparison of two recommended approaches. PMID: 15781937

Maisels MJ. [2006] Pediatr Rev. 27:443–454; Neonatal jaundice PMID: 17142466

Manning D, Todd P, Maxwell M, Jane Platt M. [2007] Arch Dis Child Fetal Neonatal Ed 92:342–346; Prospective surveillance study of severe hyperbilirubinaemia in the newborn in the UK and Ireland. PMID: 17074786

Bhutani VK, Johnson L. [2009] J Perinatol. 2p Suppl 1:S20–S24; Kernicterus in the 21st century: frequently asked questions. PMID: 19177056

Shapiro SM [2010] Semin Fetal Neonatal Med. 15(3):157–163; Chronic bilirubin encephalopathy: diagnosis and outcome. PMID: 20116355

Kaplan M, Bromiker R, Hammerman C. [2011] Neonatology 100(4):354–362; Severe neonatal hyperbilirubinemia and kernicterus: are these still problems in the third millennium? PMID: 21968213

Sgro M, Campbell D, Barozzino T, Shah V. [2011] J Perinatol. 31(6):392–396; Acute neurological findings in a national cohort of neonates with severe neonatal hyperbilirubinemia. PMID: 21151009

G6PD usually working at 1 – 2% capacity in normals:
Gaetani GD, Parker JC, Kirkman HN. [1974] Proc Natl Acad Sci U S A. 7:3584–3587; Intracellular restraint: a new basis for the limitation in response to oxidative stress in human erythrocytes containing low-activity variants of glucose-6-phosphate dehydrogenase. PMID: 4154443

Not testing after hemolytic episode:
Beutler, E [2008] Blood 111:16–24; Glucose-6-phosphate dehydrogenase deficiency: a historical perspective PMID: 18156501

Kaplan M, Hammerman C. [2011] Semin Perinatol. 35:155–161; Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: biochemical versus genetic technologies. PMID: 21641489

Minucci A, Giardina B, Zuppi C, Capoluongo E. [2009] IUBMB Life. 61:27–34; Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why? PMID: 18942156

Comparisons of screening methods:
Kaplan M, Leiter C, Hammerman C, Rudensky B. [1997] Clinical Chemistry 43:1236–1237; Comparison of Commercial Screening Tests for Glucose-6-Phosphate Dehydrogenase Deficiency in the Neonatal Period, PMID: 9216462

LaRue N, Kahn M, Murray M, Leader BT, Bansil P, McGray S, Kalnoky M, Zhang H, Huang H, Jiang H, Domingo GJ. [2014] Am J Trop Med Hyg. 91:854–861; Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency. PMID: 25071003

Screening in reference to malaria:
von Seidlein L, Auburn S, Espino F, Shanks D, Cheng Q, McCarthy J, Baird K, Moyes C, Howes R, Ménard D, Bancone G, Winasti-Satyahraha A, Vestergaard LS, Green J, Domingo G, Yeung S, Price R. [2013] Malar J. 12:112–; Review of key knowledge gaps in glucose-6-phosphate dehydrogenase deficiency detection with regard to the safe clinical deployment of 8-aminoquinoline treatment regimens: a workshop report. PMID: 23537118

Adu-Gyasi D, Asante KP, Newton S, Dosoo D, Amoako S, Adjei G, Amoako N, Ankrah L, Tchum SK, Mahama E, Agyemang V, Kayan K, Owusu-Agyei S. [2015] PLoS One. 2015 Apr 17;10(4):e0125796. 10:e0125796.–; Evaluation of the diagnostic accuracy of CareStart G6PD deficiency Rapid Diagnostic Test (RDT) in a malaria endemic area in Ghana, Africa. PMID: 25885097

WHO recommendations:
WHO Working Group [1989] Bulletin of the World Health Organization 67:601–611; Glucose-6-phosphate dehydrogenase deficiency* PMID: 2633878

Distinguishing intermediate from normal levels:
Algur N, Avraham I, Hammerman C, Kaplan M. [2012] J Pediatr. 161:197–200; Quantitative neonatal glucose-6-phosphate dehydrogenase screening: distribution, reference values, and classification by phenotype. PMID: 22494872

Riskin A, Gery N, Kugelman A, Hemo M, Spevak I, Bader D. [2012] J Pediatr. 161:191–196; Glucose-6-phosphate dehydrogenase deficiency and borderline deficiency: association with neonatal hyperbilirubinemia. PMID: 22459229

LaRue N, Kahn M, Murray M, Leader BT, Bansil P, McGray S, Kalnoky M, Zhang H, Huang H, Jiang H, Domingo GJ. [2014] Am J Trop Med Hyg. 91:854–861; Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency. PMID: 25071003

Double enzyme assay:
Minucci A, Giardina B, Zuppi C, Capoluongo E. [2009] IUBMB Life. 61:27–34; Glucose-6-phosphate dehydrogenase laboratory assay: How, when, and why? PMID: 18942156

Cytofluorometric assay:
Shah SS, Diakite SA, Traore K, Diakite M, Kwiatkowski DP, Rockett KA, Wellems TE, Fairhurst RM. [2012] Sci Rep. 2:299–; A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency. PMID: 22393475

COVID-19 & G6PD Deficiency cited resources

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  20. Eziokwu A S, Angelini D (March 28, 2018) New Diagnosis of G6PD Deficiency Presenting as Severe Rhabdomyolysis. Cureus 10(3): e2387. doi:10.7759/cureus.2387
  21. Milan Talwar, Sriram Krishnamurthy, Narayanan Parameswaran, C. G. Delhikumar, Satish Haridasan & Bheemanathi Hanuman Srinivas (2019) Severe acute kidney injury owing to rhabdomyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency, Paediatrics and International Child Health, 39:2, 150-153, DOI: 10.1080/20469047.2018.1439804
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  23. Samya Mohammad, Megan E. B. Clowse, Amanda M. Eudy, AND Lisa G. Criscione-Schrieber Examination of Hydroxychloroquine Use and Hemolytic Anemia in G6PDH-Deficient Patients. Arthritis Care & ResearchVol. 70, No. 3, March 2018, pp 481–485 DOI 10.1002/acr.23296© 2017, American College of Rheumatology
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