Glucose-6-phosphate dehydrogenase deficiency: a historical perspective

Blood ◽  
2008 ◽  
Vol 111 (1) ◽  
pp. 16-24 ◽  
Author(s):  
Ernest Beutler
Keyword(s):  
Population Genetics ◽  
Molecular Biology ◽  
Historical Perspective ◽  
Dehydrogenase Deficiency ◽  
Clinical Manifestations ◽  
Historical Review ◽  
Human Enzyme ◽  
High Prevalence ◽  
The Many ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase deficiency serves as a prototype of the many human enzyme deficiencies that are now known. Since its discovery more than 50 years ago, the high prevalence of the defect and the easy accessibility of the cells that manifest it have made it a favorite tool of biochemists, epidemiologists, geneticists, and molecular biologists as well as clinicians. In this brief historical review, we trace the discovery of this defect, its clinical manifestations, detection, population genetics, and molecular biology.

scholarly journals Epidemiology of hereditary anemias in Saudi Arabia

2021 ◽  
Author(s):  
Shada Murshed Alharbi ◽  
Jawad Hussain Alshaiti ◽  
Jamila Mofareh Ghazwani ◽  
Afia Mofareh Ghazwani ◽  
Nawaf Mohammed Abushelwah ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Dehydrogenase Deficiency ◽  
Epidemiological Studies ◽  
Cell Disease ◽  
The Past ◽  
Prevalence Trends ◽  
High Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

The prevalence rates of hereditary anemias in Saudi Arabia are remarkably high when compared to other countries. For instance, estimates show that the prevalence of thalassemia constitutes one of the highest rates globally. Furthermore, it has been demonstrated that epidemiology significantly differs between the different regions across the Kingdom. Therefore, many epidemiological investigations were conducted. In this context, it has been demonstrated that the prevalence of thalassemia ranges from 0.4% to 5.9% in the Northern and Eastern regions, respectively. In the present literature review, we have discussed the different findings of epidemiological studies that studied the epidemiology of hereditary anemias in Saudi Arabia. We mainly discussed the epidemiology of glucose-6-phosphate dehydrogenase deficiency (G6PD), sickle cell disease, and thalassemia. Recent evidence indicates that the trends of β-thalassemia are significantly decreasing over the past years. On the other hand, it has been demonstrated that the prevalence trends of sickle cell disease is constant over the past years. G6PD is also highly prevalent in Saudi Arabia. However, recent evidence is lacking in the literature and needs to be updated by future investigations. Consanguineous marriage has been reported to be an important risk factor for the high prevalence of β-thalassemia and sickle cell disease across the Kingdom.

Screening of Glucose-6-Phosphate Dehydrogenase Deficiency in Neonatal Hyperbilirubinaemia at 300-Bedded Pyin Oo Lwin General Hospital

2019 ◽  
Vol 31 (3) ◽  
pp. 226-232
Keyword(s):  
General Hospital ◽  
G6pd Deficiency ◽  
Serum Bilirubin Level ◽  
Total Serum ◽  
Cross Sectional ◽  
Qualitative And Quantitative ◽  
Quantitative Measurements ◽  
Human Enzyme ◽  
High Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas, affecting more than 400 million people worldwide. This hospital- and laboratory-based, cross-sectional descriptive study was conducted with the aim of determining the prevalence of G6PD deficiency among 200 newborns at 300-bedded Pyin Oo Lwin General Hospital during January to March 2017. The participants were 103 girls (58.5%) and 97 boys (41.5%). Both qualitative and quantitative measurements by using Brewer's method and G-SIX kit method were applied for diagnosis of G6PD deficiency. Total serum bilirubin level was measured by Bilirubinometer. Of the 200 newborns, 21(10.5%) were G6PD deficient. The overall prevalence of G6PD deficiency was 10.5% (21/200) and male was predominant than female (17.5% vs 3.9%). Out of 10.5% (21/100)G6PD deficient newborns, 5(23.8%) and 16(76.2%) were mild and moderate G6PD deficiency, respectively. Regarding hyperbilirubinaemia, 9(42.9%), 3(14.3%), 2(19.0%) and 5(23.8%) were severe, moderate and mild hyperbilirubinaemia and normal bilirubin, respectively. This study showed that a significant correlation between the severity of hyperbili- rubinaemia and G6PD activity (p <0.05). Taking into consideration of the above results, the high prevalence can be useful for providing appropriate prevention and early treatment of complications in routine neonatal screening in this area.

Clinical Manifestations and Therapeutic Findings of the Children with Glucose-6-Phosphate Dehydrogenase Deficiency Presenting Favism

2020 ◽  
Vol 20 ◽  
Author(s):  
Fariba Tarhani ◽  
Alireza Nezami ◽  
Ghobad Heidari ◽  
Babak Abdolkarimi
Keyword(s):  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Clinical Manifestations ◽  
Descriptive Study ◽  
Cross Sectional ◽  
Common Complaint ◽  
The Mean ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Hydration Therapy

Aim: Favism is characterized as acute anemia, due to Glucose-6-phosphate dehydrogenase (G6PD) deficiency as a result of fava beans intake. It is associated with paleness, jaundice, and hemoglobinuria. In this study, signs, symptoms and therapeutic findings of the patients with hemolysis due to G6PD deficiency were investigated in Shahid Madani Hospital of Khorramabad, Lorestan. Methods: This is a single-center cross-sectional descriptive study that was conducted on all children with G6PD deficiencyinduced hemolysis. Results: 308 children (64.3% male and 35.7% female) were included in this study. The most common complaint was jaundice (82.5%) and the most common cause of hemolysis was the intake of fava bean (85.7%). 68% of the children were treated with hydration/fluid therapy. Blood transfusion was conducted in 36.36% of the cases and the mean of blood administered was 18.9 cc/kg. Conclusion: In this study, hydration therapy was performed in most of the children presenting favism. Also, the incorrect calculation of the amount of blood needed for transfusion has increased the frequency of blood transfusions and prolonged hospitalization time.

scholarly journals High Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency without Gene Mutation Suggests a Novel Genetic Mechanism Predisposing to Ketosis-Prone Diabetes

2005 ◽  
Vol 90 (8) ◽  
pp. 4446-4451 ◽  
Author(s):  
Eugene Sobngwi ◽  
Jean-François Gautier ◽  
Jean-Philippe Kevorkian ◽  
Jean-Marie Villette ◽  
Jean-Pierre Riveline ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Dehydrogenase Deficiency ◽  
Genetic Mechanism ◽  
High Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals PO 8527 GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND ASSOCIATION WITH UNCOMPLICATED MALARIA IN CONGOLESE CHILDREN CONSULTING IN A PAEDIATRIC HOSPITAL IN BRAZZAVILLE

2019 ◽  
Vol 4 (Suppl 3) ◽  
pp. A49.3-A50
Author(s):  
Nerly S Gampio Gueye ◽  
Velavan P Thirumalaisamy ◽  
Christevy Vouvoungui ◽  
Simon Ch Kobawila ◽  
David Nderu ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Uncomplicated Malaria ◽  
Dehydrogenase Deficiency ◽  
Haemoglobin Concentration ◽  
Public Health Problem ◽  
Malaria Prevalence ◽  
Paediatric Hospital ◽  
High Prevalence ◽  
Republic Of The Congo ◽  
Glucose 6 Phosphate Dehydrogenase

BackgroundMalaria remains a public health problem in Republic of the Congo. The sub-microscopic infection including gametocytaemia constitutes a parasite reservoir that is recognised to contribute to malaria transmission. It is known that primaquine, an 8-aminoquinoline, is effective to eliminate Plasmodium falciparum (Pf) gametocytes. However, it induces haemolytic anaemia in individuals with glucose-6-phosphate dehydrogenase deficiency (G6PDd). It has been reported G6PDd also confers protection against severe malaria. To know the prevalence of G6PDd in the Congolese population is important in the case of future utilisation of this drug in the country. Therefore, in this study, we investigated 1) the prevalence of G6PDd in children infected with Pf and 2) the possible association between the presence of malaria, the presence of G6PD mutation and haemoglobin concentration.Methods229 children aged 1 to 10 years old presenting with fever (axillary T°≥37.5°C) were enrolled at the paediatric hospital Marien Ngouabi in Brazzaville. Thick and thin blood smears were done to detect and identify malaria parasites and determine parasite density. To detect the different glucose-6-phosphate dehydrogenase genotypes, a 968 bp fragment of the G6PD gene containing the polymorphisms 202G&gt1;A and 376&gt1;G was amplified by PCR followed by sequencing.ResultsMalaria prevalence was 22 (10%). With regard to G6PD analysis, it was found that 206 patients had G6PD genotype available including 74.8% (154/206) with G6PD normal, 12.1% (25/206) with heterozygous genotypes and 13.1% (27/206) with G6PD deficiency [11.6% (24/206) were male hemizygous and 1.4% (3/206) were female homozygous]. Data are further analysed to investigate the association between G6PD genotype, uncomplicated malaria, haemoglobin concentration as well as parasite densities.ConclusionA high prevalence of G6PD deficiency is reported for these Congolese children. Further investigation with larger sample size in different areas of the country is needed to design future and adapted interventions.

scholarly journals Acute Hemolytic Anemia Induced by Levofloxacin in A Woman With G6PD Deficiency: A Case Report

2021 ◽  
Author(s):  
Ebrahim Salehifar ◽  
Masoud Aliyali ◽  
Aliyeh Bazi
Keyword(s):  
Case Report ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Drug Induced ◽  
High Prevalence ◽  
Northern Regions ◽  
Alternative Antibiotic ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Possible Cause

Introduction: Glucose 6-Phosphate Dehydrogenase deficiency (G6PD) is an X-linked recessive disorder recognized as the most prevalent enzyme deficiency around the world. G6PD deficiency has a high prevalence in Iran, especially in the northern regions. As we know, hemolysis in G6PD patients was not reported with levofloxacin previously. Case Report: In this report, we introduce a 54-year-old G6PD deficient woman who experienced the symptoms of hemolytic anemia following completion of treatment with levofloxacin. Result: After ruling out other causes of hemolysis, by using the Naranjo scale, levofloxacin was considered as a possible cause of hemolysis. Conclusion: Though the hemolytic anemia induced by levofloxacin is extremely rare in G6PD deficient patients, drug-induced hemolytic anemia should be considered as one of the differential diagnoses. It would be appropriate to use an alternative antibiotic instead of levofloxacin in a G6PD deficient patient.  

Glucose-6-Phosphate Dehydrogenase Deficiency in an Old Woman

2020 ◽  
Vol 6 (3) ◽  
Author(s):  
Briantais Antoine ◽  
Froidefond Margaux ◽  
Seguier Julie ◽  
Swiader Laure ◽  
Durand Jean Marc
Keyword(s):  
Dehydrogenase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase
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