scholarly journals Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania

Pathogens ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 931
Author(s):  
Oum Kelthoum Mamadou Djigo ◽  
Mohamed Salem Ould Ahmedou Salem ◽  
Sileye Mamadou Diallo ◽  
Mohamed Abdallahi Bollahi ◽  
Boushab Mohamed Boushab ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
African Ancestry ◽  
Population Based ◽  
Black African ◽  
Plasmodium Vivax Malaria ◽  
The Mediterranean ◽  
Linguistic Groups ◽  
Study Sites ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Genotype Screening

Plasmodium vivax malaria is endemic in Mauritania. Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop acute hemolytic anemia when exposed to 8-aminoquinoline antimalarial drugs, which are indispensable for a complete cure. The prevalence of G6PD allelic variants was assessed in different ethno-linguistic groups present in Mauritania. A total of 996 blood samples (447 males and 549 females; 499 white Moors and 497 individuals of black African ancestry) were collected from febrile patients in 6 different study sites: Aleg, Atar, Kiffa, Kobeni, Nouakchott, and Rosso. The presence of the African-type G6PD A- (G202A, A376G, A542T, G680T, and T968C mutations) and the Mediterranean-type G6PD B- (C563T) variants was assessed by PCR followed by restriction fragment length polymorphism and/or DNA sequencing. The prevalence of African-type G6PD A- genotype was 3.6% (36/996), with 6.3% (28/447) of hemizygote (A-) males and 1.5% (8/549) of homozygous (A-A-) females. Forty of 549 (7.3%) women were heterozygous (AA-). The following genotypes were observed among hemizygous men and/or homozygous women: A376G/G202A (22/996; 2.2%), A376G/T968C Betica-Selma (12/996; 1.2%), and A376G/A542T Santamaria (2/996; 0.2%). The Mediterranean-type G6PD B- genotype was not observed. The prevalence rates of G6PD A- genotype in male (10/243; 4.1%) and heterozygous female (6/256; 2.3%) white Moors were lower (p < 0.05) than those of males (18/204; 8.8%) and heterozygous females (34/293; 11.6%) of black African ancestry. There were only a few homozygous women among both white Moors (3/256; 1.2%) and those of black African ancestry (5/293; 1.7%). The prevalence of G6PD deficiency in Mauritania was comparable to that of neighboring countries in the Maghreb. Because of the purportedly close ethnic ties between the Mauritanian white Moors and the peoples in the Maghreb, further investigations on the possible existence of the Mediterranean-type allele are required. Moreover, a surveillance system of G6PD phenotype and/or genotype screening is warranted to establish and monitor a population-based prevalence of G6PD deficiency.

scholarly journals Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against Plasmodium vivax malaria

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Ghulam R Awab ◽  
Fahima Aaram ◽  
Natsuda Jamornthanyawat ◽  
Kanokon Suwannasin ◽  
Watcharee Pagornrat ◽  
...  
Keyword(s):  
Protective Effect ◽  
Plasmodium Vivax ◽  
G6pd Deficiency ◽  
Vivax Malaria ◽  
Malaria Incidence ◽  
Large Population ◽  
Credible Interval ◽  
Radical Cure ◽  
Plasmodium Vivax Malaria ◽  
Glucose 6 Phosphate Dehydrogenase

X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The severe Mediterranean variant (G6PD Med) found across Europe and Asia is thought to confer protection against malaria, but its effect is unclear. We fitted a Bayesian statistical model to observed G6PD Med allele frequencies in 999 Pashtun patients presenting with acute Plasmodium vivax malaria and 1408 population controls. G6PD Med was associated with reductions in symptomatic P. vivax malaria incidence of 76% (95% credible interval [CI], 58–88) in hemizygous males and homozygous females combined and 55% (95% CI, 38–68) in heterozygous females. Unless there is very large population stratification within the Pashtun (confounding these results), the G6PD Med genotype confers a very large and gene-dose proportional protective effect against acute vivax malaria. The proportion of patients with vivax malaria at risk of haemolysis following 8-aminoquinoline radical cure is substantially overestimated by studies measuring G6PD deficiency prevalence in healthy subjects.

Universal Screening for G6PD Deficiency Detects More Cases Than Selective Testing

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1261-1261
Author(s):  
Ilan Segal ◽  
Shraga Aviner ◽  
Ashraf Abu Rmaileh ◽  
Ornit Cohen ◽  
Avraham Sayag ◽  
...  
Keyword(s):  
Risk Factors ◽  
G6pd Deficiency ◽  
Universal Screening ◽  
Conflicts Of Interest ◽  
Fold Increase ◽  
Population Based ◽  
Multicultural Society ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Enzyme Test ◽  
Background Testing

Abstract Background: Testing for glucose-6-phosphate dehydrogenase (G6PD) deficiency is traditionally restricted to jaundiced neonates, as well as to those whose risk factors provide sufficient grounds to suspect the deficiency. We assumed that in a multi-ethnic, multicultural society, routine neonatal screening for G6PD deficiency would detect more affected neonates. Methods: An observational, population-based, cohort study was designed to compare the incidence of G6PD deficiency between two groups of neonates using a validated qualitative enzyme test. Incidence of G6PD deficiency was calculated retrospectively for one group of neonates born between January 2005 and July 2012 (i.e., epoch 1), when only "at-risk" newborns were tested for the deficiency (i.e., group 1). Incidence was also calculated for a second, prospective group of neonates, who were all to be born between August 2012 and April 2014 (i.e., epoch 2), and were all screened for the deficiency irrespective of risk factors. Results: A total of 39,268 live-born infants were included in our study. In epoch 1, 6.8% of all newborns were tested for the deficiency, compared to about 87% in epoch 2. The incidence of G6PD deficiency was 0.4% (119/29,332) and 1.6% (156/9,936) in epoch 1 and epoch 2, respectively (p<0.05). Among females, there was a 6.6-fold increase in incidence of G6PD deficiency between epoch 1 (0.08% [12/14,410]) and epoch 2 (0.53% [26/4,881]), while among males there was a 3.4-fold increase in incidence between epoch 1 and epoch 2 (0.72% [107/14,922] and 2.47% [125/5055], respectively). Conclusions: As universal screening for G6PD deficiency detects more affected newborns than the selective, risk-factor-based testing does, we suggest that validation of our study and cost-effectiveness analyses may further the aim of introducing universal screening for G6PD deficiency for neonates born in multi-ethnic, multicultural society setting. Disclosures No relevant conflicts of interest to declare.

scholarly journals The risk of adverse clinical outcomes following treatment of Plasmodium vivax malaria with and without primaquine in Papua, Indonesia

2020 ◽  
Vol 14 (11) ◽  
pp. e0008838
Author(s):  
Kamala Thriemer ◽  
Jeanne-Rini Poespoprodjo ◽  
Enny Kenangalem ◽  
Nicholas M. Douglas ◽  
Paulus Sugiarto ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
G6pd Deficiency ◽  
Cox Regression ◽  
Artemisinin Combination Therapy ◽  
Morbidity And Mortality ◽  
Radical Cure ◽  
Drug Induced ◽  
Routine Administration ◽  
Plasmodium Vivax Malaria ◽  
Glucose 6 Phosphate Dehydrogenase

The widespread use of primaquine (PQ) radical cure for P. vivax, is constrained by concerns over its safety. We used routinely collected patient data to compare the overall morbidity and mortality in patients treated with and without PQ without prior testing of Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency in Papua, Indonesia, where there is a low prevalence of G6PD deficiency. Records were collated from patients older than 1 year, with P. vivax infection, who were treated with an artemisinin combination therapy (ACT). The risks of re-presentation, hospitalization, major fall in haemoglobin and death within 30 days were quantified and compared between patients treated with and without PQ using a Cox regression model. In total 26,216 patients with P. vivax malaria presented to the hospital with malaria during the study period. Overall 27.56% (95% Confidence Interval (95%CI): 26.96–28.16) of 21,344 patients treated with PQ re-presented with any illness within 30 days and 1.69% (1.51–1.88) required admission to hospital. The corresponding risks were higher in the 4,872 patients not treated with PQ; Adjusted Hazard Ratio (AHR) = 0.84 (0.79–0.91; p<0.001) and 0.54 (0.41–0.70; p<0.001) respectively. By day 30, 14.15% (12.45–16.05) of patients who had received PQ had a fall in haemoglobin (Hb) below 7g/dl compared to 20.43% (16.67–24.89) of patients treated without PQ; AHR = 0.66 (0.45–0.97; p = 0.033). A total of 75 (0.3%) patients died within 30 days of treatment with a mortality risk of 0.27% (0.21–0.35) in patients treated with PQ, compared to 0.38% (0.24–0.60) without PQ; AHR = 0.79 (0.43–1.45; p = 0.448). In Papua, Indonesia routine administration of PQ radical cure without prior G6PD testing, was associated with lower risk of all cause hospitalization and other serious adverse clinical outcomes. In areas where G6PD testing is not available or cannot be delivered reliably, the risks of drug induced haemolysis should be balanced against the potential benefits of reducing recurrent P. vivax malaria and its associated morbidity and mortality.

scholarly journals Population Based Survey of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among People Living in Terai Districts of Nepal

2018 ◽  
Vol 4 ◽  
pp. 73-78
Author(s):  
Niraj Lamichhane ◽  
Nabaraj Adhikari ◽  
Upendra Thapa Shrestha ◽  
Komal Raj Rijal ◽  
Megha Raj Banjara ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Population Group ◽  
Population Based ◽  
Female Ratio ◽  
Blood Samples ◽  
Test Kit ◽  
Public Health Office ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Male To Female ◽  
Population Based Survey

Objective: This study was carried out to determine the prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency among population of selected malaria endemic districts in central and eastern terai of Nepal.Methods: Six hundred seventy whole blood samples were collected from the indigenous peoples community, identified based on district public health office records for G6PDd in the past from Jhapa, Morang and Dhanusha districts endemic to malaria, during April to June 2013. Collected blood samples were tested on the sites by using BinaxNow G6PD test kit and CareStartTM G6PD test kits.Results: The G6PD deficiency was found to be in 6.1% and 6.3% in BinaxNow and CareStartTM respectively. In 42 G6PD deficient cases number of male to female ratio was almost equal. Higher proportions of deficient cases were from Rajbanshi and Santhal communities than others. Highest number of deficient cases was in Jhapa followed by Morang and Dhanusha districts respectively.Conclusion: G6PD deficiency in indigenous population group in eastern and central terai are heterogenous. So the testing of G6PD before initiation of radical treatment of Plasmodium vivax infection would be important for reducing the risk of hemolysis following Primaquine (PQ) administration. Rational evidence-based PQ administration may be helpful in contributing towards the elimination of malaria from the country.

scholarly journals Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities

2018 ◽  
Vol 11 (1) ◽  
pp. 7-14 ◽  
Author(s):  
Gonzalo J Domingo ◽  
Nicole Advani ◽  
Ari W Satyagraha ◽  
Carol H Sibley ◽  
Elizabeth Rowley ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
G6pd Activity ◽  
Knowledge Gap ◽  
Genetic Trait ◽  
Serious Adverse Events ◽  
Severe Deficiency ◽  
Challenges And Opportunities ◽  
Plasmodium Vivax Malaria ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Gender Knowledge

Abstract Glucose-6-phosphate dehyrdgoenase (G6PD) deficiency is a common X-linked genetic trait, with an associated enzyme phenotype, whereby males are either G6PD deficient or normal, but females exhibit a broader range of G6PD deficiencies, ranging from severe deficiency to normal. Heterozygous females typically have intermediate G6PD activity. G6PD deficiency has implications for the safe treatment for Plasmodium vivax malaria. Individuals with this deficiency are at greater risk of serious adverse events following treatment with the only curative class of anti-malarials, 8-aminoquinolines, such as primaquine. Quantitative diagnostic tests for G6PD deficiency are complex and require sophisticated laboratories. The commonly used qualitative tests, do not discriminate intermediate G6PD activities. This has resulted in poor understanding of the epidemiology of G6PD activity in females and its corresponding treatment ramifications. New simple-to-use quantitative tests, and a momentum to eliminate malaria, create an opportunity to address this knowledge gap. While this will require additional resources for clinical studies, adequate operational research, and appropriate pharmacovigilance, the health benefits from this investment go beyond the immediate intervention for which the G6PD status is first diagnosed.

scholarly journals Hemolytic Dynamics of Weekly Primaquine Antirelapse Therapy Among Cambodians With Acute Plasmodium vivax Malaria With or Without Glucose-6-Phosphate Dehydrogenase Deficiency

2019 ◽  
Vol 220 (11) ◽  
pp. 1750-1760 ◽  
Author(s):  
Walter R J Taylor ◽  
Sim Kheng ◽  
Sinoun Muth ◽  
Pety Tor ◽  
Saorin Kim ◽  
...  
Keyword(s):  
Plasmodium Vivax ◽  
G6pd Deficiency ◽  
World Health ◽  
Plasmodium Vivax Malaria ◽  
Parasitemia Level ◽  
The Mean ◽  
Male Sex ◽  
Health Organization ◽  
Hb Concentration ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Background Hemoglobin (Hb) data are limited in Southeast Asian glucose-6-phosphate dehydrogenase (G6PD) deficient (G6PD−) patients treated weekly with the World Health Organization–recommended primaquine regimen (ie, 0.75 mg/kg/week for 8 weeks [PQ 0.75]). Methods We treated Cambodians who had acute Plasmodium vivax infection with PQ0.75 and a 3-day course of dihydroartemisinin/piperaquine and determined the Hb level, reticulocyte count, G6PD genotype, and Hb type. Results Seventy-five patients (male sex, 63) aged 5–63 years (median, 24 years) were enrolled. Eighteen were G6PD deficient (including 17 with G6PD Viangchan) and 57 were not G6PD deficient; 26 had HbE (of whom 25 were heterozygous), and 6 had α-/β-thalassemia. Mean Hb concentrations at baseline (ie, day 0) were similar between G6PD deficient and G6PD normal patients (12.9 g/dL [range, 9‒16.3 g/dL] and 13.26 g/dL [range, 9.6‒16 g/dL], respectively; P = .46). G6PD deficiency (P = &lt;.001), higher Hb concentration at baseline (P = &lt;.001), higher parasitemia level at baseline (P = .02), and thalassemia (P = .027) influenced the initial decrease in Hb level, calculated as the nadir level minus the baseline level (range, −5.8–0 g/dL; mean, −1.88 g/dL). By day 14, the mean difference from the day 7 level (calculated as the day 14 level minus the day 7 level) was 0.03 g/dL (range, −0.25‒0.32 g/dL). Reticulocyte counts decreased from days 1 to 3, peaking on day 7 (in the G6PD normal group) and day 14 (in the G6PD deficient group); reticulocytemia at baseline (P = .001), G6PD deficiency (P = &lt;.001), and female sex (P = .034) correlated with higher counts. One symptomatic, G6PD-deficient, anemic male patient was transfused on day 4. Conclusions The first PQ0.75 exposure was associated with the greatest decrease in Hb level and 1 blood transfusion, followed by clinically insignificant decreases in Hb levels. PQ0.75 requires monitoring during the week after treatment. Safer antirelapse regimens are needed in Southeast Asia. Clinical Trials Registration ACTRN12613000003774.

scholarly journals Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination

2015 ◽  
Vol 9 (03) ◽  
pp. 289-297 ◽  
Author(s):  
Seyed Mehdi Tabatabaei ◽  
Alireza Salimi Khorashad ◽  
Mohammad Sakeni ◽  
Ahmad Raeisi ◽  
Zahra Metanat
Keyword(s):  
Malaria Elimination ◽  
G6pd Deficiency ◽  
Genetic Disorder ◽  
Test Results ◽  
Plasmodium Vivax Malaria ◽  
Life Threatening ◽  
Normal Enzyme ◽  
Filter Papers ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Fluorescent Spot

Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked genetic disorder with a relatively high frequency in malaria-endemic regions. It is an obstacle to malaria elimination, as primaquine administered in the treatment of malaria can cause hemolysis in G6PD-deficient individuals. This study presents information on the prevalence of G6PD deficiency in Sistan and Balouchetsan province, which hosts more than 90% of Plasmodium vivax malaria cases in Iran. This type of information is needed for a successful malaria elimination program. Methodology: A total of 526 students were randomly recruited through schools located in southeast Iran. Information was collected by interviewing the students using a structured questionnaire. Blood samples taken on filter papers were examined for G6PD deficiency using the fluorescent spot test. Results: Overall, 72.8% (383/526) of the subjects showed normal G6PD enzyme function. Mild and severe G6PD deficiency was observed in 14.8% (78) and 12.2% (64) of subjects, respectively. A total 193/261 males (73.9%) and 190/265 (72%) females had normal enzyme activity. Mild G6PD deficiency was observed in 10.8% (28) and 18.9% (50) of male and female subjects, respectively. However, in comparison with females, a greater proportion of males showed severe enzyme deficiency (15.3% versus 9.1%). All these differences were statistically significant (p < 0.006). Conclusions: G6PD deficiency is highly prevalent in southeast Iran. G6PD-deficient individuals are susceptible to potentially severe and life-threatening hemolytic reactions after primaquine treatment. In order to achieve malaria elimination goals in the province, G6PD testing needs to be made routinely available within the health system.

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: The Mediterranean C563T mutation screening

2014 ◽  
Vol 74 (3) ◽  
pp. 259-263 ◽  
Author(s):  
Elina Molou ◽  
Kleopatra H. Schulpis ◽  
Georgia Thodi ◽  
Vassiliki Georgiou ◽  
Yannis Dotsikas ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Mutation Screening ◽  
The Mediterranean ◽  
Glucose 6 Phosphate Dehydrogenase

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population

2021 ◽  
pp. 1-7
Author(s):  
Jian Gao ◽  
Sheng Lin ◽  
Shiguo Chen ◽  
Qunyan Wu ◽  
Kaifeng Zheng ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Amplification Refractory Mutation System ◽  
Gene Variants ◽  
Coding Region ◽  
G6pd Gene ◽  
Mutation System ◽  
Hotspot Mutations ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Generation Sequencing

<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. <b><i>Methods:</i></b> A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G&#x3e;T, c.1388G&#x3e;A, c.95A&#x3e;G, c.1024C&#x3e;T, c.392G&#x3e;T, and c.871G&#x3e;A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. <b><i>Results:</i></b> The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T&#x3e;C, which was in the noncoding region. c.1376G&#x3e;T and c.1388G&#x3e;A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. <b><i>Conclusions:</i></b> This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

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