glucose-6-phosphate dehydrogenase deficiency
SaudiVarKB evidence summary derived from retained literature mentions.
96Phenotype mentions
96Publications
7Associated gene records
15Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.486-34delT | c.486-34delT | 2 | 2 |
| G202A | G202A | 2 | 2 |
| R257L | R257L | 1 | 1 |
| K238R | K238R | 1 | 1 |
| c.1311C>T | c.1311C>T | 1 | 1 |
| c.1365-13T>C | c.1365-13T>C | 1 | 1 |
| Q192R | Q192R | 1 | 1 |
| C698T | C698T | 1 | 1 |
| rs662 | rs662 | 1 | 1 |
| rs149572881 | rs149572881 | 1 | 1 |
| A376G | A376G | 1 | 1 |
| p.Arg361Trp | p.Arg361Trp | 1 | 1 |
| c.563C>T | c.563C>T | 1 | 1 |
| G410D | G410D | 1 | 1 |
| V291M | V291M | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
96 records- 2026Pregnancy-Triggered Vaso-Occlusive Crises in Hemoglobin SE Disease Complicated by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.Cureus1 mentions
- 2026Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Variants and Their Association With Hyperbilirubinemia and Phototherapy Needs.Cureus1 mentions
- 2025Heartmate 3 left ventricular assist device system in patients with glucose-6-phosphate dehydrogenase deficiency.Perfusion1 mentions
- 2025Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.PloS one1 mentions
- 2025Glucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.Case reports in nephrology1 mentions
- 2025Case report: Metformin-induced hemolytic anemia in a glucose-6-phosphate dehydrogenase-deficient patient.The Journal of international medical research1 mentions
- 2025A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia.Cureus1 mentions
- 2025Public Knowledge, Attitudes, and Preventive Practices Toward G6PD Deficiency in Al-Kharj, Saudi Arabia: A Community-Based Cross-Sectional Study.Healthcare (Basel, Switzerland)1 mentions
- 2024Glutathione S-Transferase and Moderate Neonatal Hyperbilirubinemia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency.The Journal of pediatrics1 mentions
- 2024Joint quantile disease mapping with application to malaria and G6PD deficiency.Royal Society open science1 mentions
- 2024Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.Malaria journal1 mentions
- 2024Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.BioMedicine1 mentions
- 2024Rate of glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia at a private tertiary centre.Saudi medical journal1 mentions
- 2024Prevalence and screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Yemeni blood donors.Hematology (Amsterdam, Netherlands)1 mentions
- 2023A computational study of structural analysis of Class I human glucose-6-phosphate dehydrogenase (G6PD) variants: Elaborating the correlation to chronic non-spherocytic hemolytic anemia (CNSHA).Computational biology and chemistry1 mentions
- 2023Risk Factors for Glucose 6-Phosphate Dehydrogenase and COVID-19 Disease-A Retrospective Study at a Major Saudi Tertiary Center.Viruses1 mentions
- 2023A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.Blood cells, molecules & diseases1 mentions
- 2023Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in Arab Countries: Insights from a Systematic Review.Journal of clinical medicine1 mentions
- 2023Assessment of Parents' Knowledge Regarding Pediatric Glucose-6-Phosphate Dehydrogenase Deficiency in Saudi Arabia.Cureus1 mentions
- 2022Management of Patients with Alagille Syndrome Undergoing Living Donor Liver Transplantation: A Report of 2 Cases.The American journal of case reports1 mentions
- 2022Preliminary Study of Structural Changes of Glucose-6-Phosphate Dehydrogenase Deficiency Variants.BioMedicine1 mentions
- 2022Skeletal and dental manifestations of Glucose-6-phosphate dehydrogenase deficiency, thalassemia, and sickle cell anemia patients in Saudi Arabia.European review for medical and pharmacological sciences1 mentions
- 2021G6PD deficiency in the COVID-19 pandemic: Ghost within Ghost.Hematology/oncology and stem cell therapy1 mentions
- 2021Assessment of serum aflatoxin B1 levels in neonatal jaundice with glucose-6-phosphate dehydrogenase deficiency: a preliminary study.Mycotoxin research1 mentions
- 2021Role of glucose 6-phosphate dehydrogenase (G6PD) deficiency and its association to Autism Spectrum Disorders.Biochimica et biophysica acta. Molecular basis of disease1 mentions
- 2021Development of allelic discrimination assay to detect Mediterranean G6PD mutation and its linked inheritance with normal vision and/colorblindness loci for 4 generations among Egyptian and Emirati families.Saudi journal of biological sciences1 mentions
- 2021Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation.Case reports in hematology1 mentions
- 2021Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia.Hemoglobin1 mentions
- 2020Naphthalene Toxicity in a Three-Year-Old Child Complicated by Severe Hemolytic Anemia and Mild Methemoglobinemia: A Case Report.The Journal of emergency medicine1 mentions
- 2020Anaesthesia Management of a Patient with Glucose-6-Phosphate Dehydrogenase Deficiency Undergoing Total Thyroidectomy.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP1 mentions
- 2019Diabetic Ketoacidosis Revealing Severe Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD-D) Deficiency with Methemoglobinemia: A Case Report.The American journal of case reports1 mentions
- 2018G6PD deficiency is not an uncommon cause of pigment nephropathy.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Decreased Glutathione S-transferase Level and Neonatal Hyperbilirubinemia Associated with Glucose-6-phosphate Dehydrogenase Deficiency: A Perspective Review.American journal of perinatology1 mentions
- 2017Prolonged indirect hyperbilirubinemia in a moderately preterm boy with Mediterranean glucose-6-phosphate dehydrogenase and glutathione S-transferase Mu 1 null mutations.BMJ case reports1 mentions
- 2017Readmission for neonatal hyperbilirubinemia in an area with a high prevalence of glucose-6-phosphate dehydrogenase deficiency: A hospital-based retrospective study.Journal of neonatal-perinatal medicine1 mentions
- 2017Glucose-6-phosphate dehydrogenase deficiency induced haemolysis in a woman with newly diagnosed diabetes after normalisation of hyperglycaemia.Diabetic medicine : a journal of the British Diabetic Association1 mentions
- 2017Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.American journal of medical genetics. Part A1 mentions
- 2017Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.BMC pediatrics1 mentions
- 2017Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.PLoS medicine1 mentions
- 2017Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt.Annals of Saudi medicine1 mentions
- 2016First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias.Annals of medicine and surgery (2012)1 mentions
- 2015Genetic polymorphisms in paraoxonase 1 and G protein-coupled receptor 77, and the risk of glucose-6-phosphate dehydrogenase deficiency in a Saudi population.Saudi medical journal1 mentions
- 2014Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: the burden of consanguinity.American journal of medical genetics. Part A1 mentions
- 2014Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.British journal of haematology1 mentions
- 2014Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A- variant in a Saudi population.The Journal of international medical research1 mentions
- 2013Insertion/Deletion polymorphisms do play any role in G6PD deficiency individuals in the Kingdom of the Saudi Arabia.Bioinformation1 mentions
- 2013The role of erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency in the pathogenesis of anemia in patients on hemodialysis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map.PLoS medicine1 mentions
- 2010Genetics of glucose-6-phosphate dehydrogenase deficiency in Saudi patients.Clinical genetics1 mentions
- 2010Prevalence of glucose-6-phosphate dehydrogenase deficiency and sickle cell trait among blood donors in Riyadh.Asian journal of transfusion science1 mentions
- 2009G6PD deficiency in autism: a case-series from Saudi Arabia.European child & adolescent psychiatry1 mentions
- 2009A hemolysis trigger in glucose-6-phosphate dehydrogenase enzyme deficiency. Vicia sativa (Vetch).Saudi medical journal1 mentions
- 2008Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study.Annals of Saudi medicine1 mentions
- 2008Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Khorfakkan, United Arab Emirates.Saudi medical journal1 mentions
- 2005Genetic diversity among the Arabs.Community genetics1 mentions
- 2005Screening for glucose-6-phosphate dehydrogenase deficiency in Behçet's disease.Saudi medical journal1 mentions
- 2005Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia.Journal of medical screening1 mentions
- 2004Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a possible risk factor for the development of preeclampsia.Medical hypotheses1 mentions
- 2003A hematological survey of preschool children of the United Arab Emirates.Saudi medical journal1 mentions
- 2003Genetic Blood Disorders Survey in the Sultanate of Oman.Journal of tropical pediatrics1 mentions
- 2003Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency.Annals of Saudi medicine1 mentions
- 2002Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Eastern Province of Saudi Arabia.Clinical chemistry and laboratory medicine1 mentions
- 2002Frequency of glucose 6 phosphate dehydrogenase deficiency and related hemolytic anemia in Riyadh, Saudi Arabia.Journal of Ayub Medical College, Abbottabad : JAMC1 mentions
- 2001Toxoplasmosis in a group of glucose-6-phosphate dehydrogenase deficient patients.Saudi medical journal1 mentions
- 2001A community-based study of common hereditary blood disorders in Oman.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
- 2001Hemoglobin H disease in the Al-Qatif Region of Saudi Arabia.Annals of Saudi medicine1 mentions
- 1999Spectrum of genetic disorders and the impact on health care delivery: an introduction.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
- 1998Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenase deficiency and a-thalassemia in Qatif and Al Hasa.Annals of Saudi medicine1 mentions
- 1998Sickle cell disease in Bahrain: coexistence and interaction with glucose-6-phosphate dehydrogenase (G6PD) deficiency.Journal of tropical pediatrics1 mentions
- 1995Glucose-6-phosphate dehydrogenase deficiency and sickle cell genes in Bisha.Journal of tropical pediatrics1 mentions
- 1994The frequency of glucose-6-phosphate dehydrogenase phenotypes and sickle cell genes in Al-Qatif oasis.Annals of Saudi medicine1 mentions
- 1994Fructosamine in HbS and G6PD-deficient Saudi Arabs in the Eastern Province of Saudi Arabia.British journal of biomedical science1 mentions
- 1994Genetic compounds--Hb S, thalassaemias and enzymopathies: spectrum of interactions.Journal of tropical pediatrics1 mentions
- 1994Glucose-6-phosphate dehydrogenase deficiency and the sickle cell gene in Makkah, Saudi Arabia.Journal of tropical pediatrics1 mentions
- 1993Glucose-6-phosphate dehydrogenase deficiency and sickle cell genes in two regions of western Saudi Arabia.Annals of Saudi medicine1 mentions
- 1992Heterogeneity and variation of clinical and haematological expression of haemoglobin S in Saudi Arabs.Acta haematologica1 mentions
- 1992Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice.Annals of tropical paediatrics1 mentions
- 1992Effect of G-6 PD deficiency on sickle cell disease in Saudi Arabia.Indian journal of pediatrics1 mentions
- 1992Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain.Annals of Saudi medicine1 mentions
- 1991Sickle cell trait and G6PD deficiency in blood donors in eastern Saudi Arabia.Vox sanguinis1 mentions
- 1991Patterns of sickle cell, thalassaemia and glucose-6-phosphate dehydrogenase deficiency genes in north-western Saudi Arabia.Human heredity1 mentions
- 1989A benign sickle-cell disease in a Saudi subject with beta zero-thalassemia and glucose-6-phosphate dehydrogenase deficiency.Human heredity1 mentions
- 1989Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anaemia.Annals of clinical biochemistry1 mentions
- 1989Percentage glycosylated haemoglobin in normal, G6PD deficient and HbSS Saudi Arabs.Medical laboratory sciences1 mentions
- 1989Glutathione reductase in the south-western province of Saudi Arabia--genetic variation vs. acquired deficiency.Haematologia1 mentions
- 1989The effects of glucose-6-phosphate dehydrogenase deficiency on the haematological parameters and clinical manifestations in patients with sickle cell anaemia.Tropical and geographical medicine1 mentions
- 1987Glycosylated hemoglobin in Saudi sickle cell patients with glucose-6-phosphate dehydrogenase deficiency.Acta haematologica1 mentions
- 1987Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status.Acta haematologica1 mentions
- 1987Interaction between glucose-6-phosphate dehydrogenase deficiency and sickle cell gene in Saudi Arabia.Tropical and geographical medicine1 mentions
- 1986Association of red cell glucose-6-phosphate dehydrogenase with haemoglobinopathies.Human heredity1 mentions
- 1985Frequency of glucose-6-phosphate dehydrogenase deficiency in sickle-cell disease. A study in Saudi Arabia.Human heredity1 mentions
- 1984Aspects of sickle cell gene in Saudi Arabia--interaction with glucose-6-phosphate dehydrogenase deficiency.Human genetics1 mentions
- 1982Haemoglobin disorders: a pattern for thalassaemia and haemoglobinopathies in Arabia.Acta haematologica1 mentions
- 1978Fetal haemoglobin production and the sickle gene in the oases of Eastern Saudi Arabia.British journal of haematology1 mentions
- 1967Glucose-6-phosphate dehydrogenase deficiency, the sickling trait, and malaria in Saudi Arab children.The Journal of pediatrics1 mentions
- 1967Glucose-6-phosphate dehydrogenase deficiency in Saudi Arabia.Bulletin of the World Health Organization1 mentions