A curated collection of the most influential and highly-cited research papers on Glucose-6-Phosphate Dehydrogenase deficiency, spanning discovery, genetics, clinical manifestations, and therapeutic approaches.
Note: Citation counts are approximate estimates based on Google Scholar, Semantic Scholar, and other databases (as of early 2026). Papers are organized by research category and historical significance. Links to PubMed, DOI, and free PDF versions (where available) are provided.
G6PD Deficiency: A Comprehensive Video Review
A two-part video series exploring the full landscape of G6PD research — from ancient history to cutting-edge computational biology and gene therapy.
Part 1: History, Biochemistry & Clinical Impact
Part 2: Genetics, Therapeutics & Future Directions
⭐ Dr. Ernest Beutler — Pioneer of G6PD Research
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G6PD deficiency
📚 ~1,600 citations
Beutler E
Blood. 1994;84(11):3613-3636
Ernest Beutler's comprehensive review summarizing decades of G6PD research. Covers biochemistry, genetics, clinical manifestations, and population genetics in extensive detail. This is widely considered the most important single paper on G6PD deficiency and is essential reading for anyone entering the field.
A highly influential clinical review in the New England Journal of Medicine, providing physicians with practical guidance on diagnosis and management of G6PD deficiency.
The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G6PD deficiency as a marker
📚 ~580 citations
Beutler E, Yeh M, Fairbanks VF
Proc Natl Acad Sci USA. 1962;48:9-16
Ernest Beutler's groundbreaking study demonstrating X-chromosome inactivation mosaicism in human females, using G6PD deficiency as a marker. This work provided crucial evidence for the Lyon hypothesis in humans.
Enzymatic deficiency in primaquine-sensitive erythrocytes
📚 ~1,200 citations
Carson PE, Flanagan CL, Ickes CE, Alving AS
Science. 1956;124(3220):484-485
The landmark paper that first identified G6PD deficiency as the cause of primaquine-induced hemolytic anemia. This discovery established G6PD deficiency as the first known human enzymopathy and opened the field of pharmacogenetics.
The most highly cited comprehensive review on G6PD deficiency, covering epidemiology, genetics, clinical manifestations, and management. Essential reading for understanding the full spectrum of the disease.
Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group
📚 ~1,100 citations
WHO Working Group
Bull World Health Organ. 1989;67(6):601-611
The foundational WHO classification of G6PD variants into Classes I-V based on enzyme activity and clinical severity. This classification system has been used globally for decades.
The definitive modern review by Lucio Luzzatto, one of the foremost experts on G6PD. Covers molecular pathophysiology, clinical spectrum, diagnosis, and emerging therapies.
Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency
📚 ~520 citations
Au SW, Gover S, Lam VM, Adams MJ
Structure. 2000;8(3):293-303
The first crystal structure of human G6PD at 3Å resolution. Revealed the structural NADP+ binding site and explained why mutations near this site cause severe deficiency.
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator
📚 ~120 citations
Hwang S, Mruk K, Rahighi S, et al.
Nat Commun. 2018;9(1):4045
Landmark study identifying AG1, a small-molecule activator that can restore activity to deficient G6PD variants. Opens new therapeutic possibilities for treating G6PD deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations
📚 ~350 citations
Minucci A, Moradkhani K, Hwang MJ, Zuppi C, Giardina B, Capoluongo E
Blood Cells Mol Dis. 2012;48(3):154-165
Comprehensive database of 186 G6PD mutations including 3D structural analysis, restriction site changes, and WHO classification. Essential reference for molecular diagnostics.
Landmark study demonstrating 46-58% protection against severe malaria in G6PD-deficient individuals. Provided strong evidence for the malaria protection hypothesis.
G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map
📚 ~420 citations
Howes RE, Piel FB, Patil AP, Nyangiri OA, Gething PW, et al.
PLoS Med. 2012;9(11):e1001339
Global mapping study estimating 220 million males affected by G6PD deficiency worldwide. Essential for malaria elimination planning and primaquine deployment.
Glucose-6-phosphate dehydrogenase deficiency and malaria
📚 ~240 citations
Ruwende C, Hill A
J Mol Med. 1998;76(8):581-588
Comprehensive review of the relationship between G6PD deficiency and malaria resistance, discussing evolutionary implications and mechanisms of protection.
Glucose-6-phosphate dehydrogenase deficiency: a potential source of severe neonatal hyperbilirubinaemia and kernicterus
📚 ~180 citations
Kaplan M, Hammerman C
Semin Neonatol. 2002;7(2):121-128
Key paper establishing G6PD deficiency as an important cause of severe neonatal jaundice and kernicterus, with implications for newborn screening programs.