Prevalence Of Glucose-6-phosphate Dehydrogenase Deficiency Research Articles

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A ⟶ G, 202G ⟶ A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A ⟶ G, 202G ⟶ A SNPs were performed. Out of the 200 participants, 13.0% (26/200) were G6PD-deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A ⟶ G only (enzyme activity (EA): 1.19 U/g Hb), 202G ⟶A only (EA: 1.41 U/g Hb), and G202/A376 SNPs (EA: 1.14 U/g Hb), respectively. Having the 376A ⟶ G mutation was associated not only with lower red blood cell (RBC) count (3.38 × 106/µL (3.16–3.46) vs 3.95 × 106/µL (3.53–4.41), p = 0.010) but also with higher mean cell volume (MCV) (102.90 (99.40–113.0) vs 91.10 fL (84.65–98.98), p = 0.041) and mean cell haemoglobin (MCH) (33.70 pg (32.70–38.50) vs 30.75 pg (28.50–33.35), p = 0.038), whereas possessing the 202G ⟶ A mutation was associated with higher MCV only (98.90 fL (90.95–102.35) vs 91.10 fL (84.65–98.98), p = 0.041) compared to G6PD nondeficient participants. The prevalence of G6PD deficiency among HIV patients in Kumasi, Ghana, is 13.0% prevalence, comprising 1.5% and 11.5% partial and full enzyme defect, respectively, based on the methemoglobin reductase technique among HIV patients in Ghana. Among G6PD-deficient HIV patients, the prevalence of G202/A376 SNPs is 19.2%. The 376A ⟶ G mutation is associated not only with lower RBC count but also with higher MCV and MCH, whereas the 202G ⟶ A mutation is associated with higher MCV compared to the normal G6PD population.

Study of the prevalence of G6PD deficiency in the RBCs of new borns

This study we attempt to search the need for a newborn screening program for G6PD deficiency because of high prevalence in some areas and no such study was done in part of Maharashtra. Also routinely administered vitamin K prophylaxis can cause hemolysis in G6PD deficient newborns and may prove potentially fatal, which can be prevented if babies are screened for G6PD deficiency. The current study was a retrospective cross-sectional study conducted to determine the prevalence of G6PD deficiency in Red Blood Cells of born live neonates in tertiary care hospital. The research was performed at a tertiary care hospital with the 350 newborns, showing the age distribution of newborns revealed that the highest number of newborns was in the age group of 0-10 hours (96.29 percent). Of the 350 newborns, 181 (51.71 percent) were females and 169 (48.29 percent) were males and the ratio of females to males was 1.07:1. Many newborns had between 2500-3000 g (52.86 percent) of birth weight led by > 3000 g (28 percent) and < 2500 g (19.14 percent). The majority of newborns were Hindu by religion (67.14%) followed by Muslims (22.86%), Buddhists (6%), as well as other religions (4%). Most of the newborns came from 1st gravida (42.86%) and led by 2nd gravida (37.14%)

Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in Sana’a City, Yemen

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inborn enzymatic defect in the world. Determining the prevalence of G6PD deficiency is an essential step towards evaluating its impact on the health of a population. Therefore, this study aimed to determine the prevalence and factors associated with G6PD deficiency among newborns in Sana’a city, Yemen. Subjects and methods: This cross-sectional study included 397 newborns from eight public and private hospitals in Sana’a city in the period from January to March 2020. Data about gender and the factors possibly associated with G6PD deficiency were collected using a pre-designed questionnaire. G6PD deficiency was qualitatively detected in fresh blood using rapid diagnostic tests (RDTs). Data were analyzed using SPSS software, and differences were considered statistically significant at p-value

Prevalnce of G6PD deficiency amongst healthy blood donors

Introduction:Blood donation is very common procedure in clinical practice. Deficiency of G6PD is the most common erythrocyte enzymopathy and has been estimated to affect over 400 million people worldwide that may lead to neonatal jaundice or hemolytic crisis due to drugs or infections. By detecting such problem of deficiency of G6PD enzyme, we can prevent complications of blood transfusion. We can decide in whom to avoid such transfusions. Objectives:To study G6PD deficiency prevalence in healthy blood donors; according to age, sex, ABO blood group and Rh blood Group distribution. Material and methods: Qualitative method by Methaemoglobin Reduction test (MRT) was used for screening of the blood donors for G6PD deficiency. Quantitative test of all positive donors by qualitative method was done by semi-automated G6PD reagent kit. Observational Cross-sectional study involving 1012 healthy blood donors for period of 9 months was done. Results: It was observed that 35 (3.5%) blood donors were G6PD deficient amongst 1012 blood donors. The prevalence rate for G6PD deficiency observed in this study was 3.5%. Conclusion: The observation of 3.5% prevalence of G6PD deficient blood donors in the present study could be taken to consider that the problem of G6PD deficiency exists in the blood donors. It should be of concern as the G6PD deficiency remains obscure, there being no overt clinical manifestation. Prevalence of 3.5% should be taken as serious concern and further more studies are advised for screening of G6PD in healthy blood donors.

Prevalence of Glucose 6-Phosphate Dehydrogenase Variants in Malaria-Endemic Areas of South Central Timor, Eastern Indonesia.

Primaquine is an effective anti-hypnozoite drug for Plasmodium vivax and Plasmodium ovale. However, it can trigger erythrocyte hemolysis in people with glucose 6-phosphate dehydrogenase (G6PD) deficiency. In a previous report from South Central Timor (SCT), Indonesia, we described the prevalence of Vanua Lava, Chatham, and Viangchan variants; in this study, other G6PD variants (Kaiping, Coimbra, Gaohe, Canton, and Mahidol) were subsequently analyzed. For clarity, all of these results are described together. The 381 DNA samples from the previous study during 2013-2014 were analyzed for G6PD variants by using PCR-restriction fragment length polymorphism (RFLP). The prevalence of G6PD deficiency in SCT was 6.3% (24/381 cases), including 4.2% (16/381 cases), 0.5% (2/381 cases), and 1.6% (6/381 cases) for Coimbra, Kaiping, and Vanua Lava variants, respectively. No other variants were found in this population. A significant association was found between ethnicity and the distribution of G6PD Kaiping in female subjects. A positive association was shown between G6PD activity and heterozygous females carrying Coimbra genotype, hemizygous males carrying Vanua Lava, Plasmodium falciparum infection in female subjects, and P. vivax infection in male subjects. Further molecular analysis of heterozygous females, particularly in malaria-endemic areas, is needed for mapping distribution of G6PD deficiency status in Indonesia.

4146 Establishment of Screening Methods for G6DP Deficiency – Translational and Clinical Applications

OBJECTIVES/GOALS: To develop feasible screening methods for activity of the enzyme Glucose-6-phosphate dehydrogenase (G6PD) with point of care applicability. METHODS/STUDY POPULATION: Current knowledge establishes the relevance of G6PD as a critical therapeutic determinant for effective antimalarial therapy due to the occurrence of mutations that lead to post-treatment severe adverse effects. We present our findings on development of cost effective point-of-care screening methodologies to ascertain G6PD deficiency. RESULTS/ANTICIPATED RESULTS: Using Patient Cohort Explorer and data from the Department of Pathology, we established the prevalence of G6PD deficiency at the University of Mississippi Medical Center, Jackson, MS as high as 11.8% (African-American males in all population, n = 2518). Next, for selection of potential target groups, we set up a protocol for recruitment of volunteers based on ethnic background, parental ethnicity, and medical history. G6PD activity was evaluated using point of care methods [Trinity Biotech test or CareSTART Biosensor], and Gold Standard quantitative spectrophotometric assay (LabCorp). Determinations in >20 subjects have showed comparable concordance. If used with a conservative interpretation of the signal, the Trinity Biotech test showed superior potential for use in the field relative to the CareSTART Biosensor. DISCUSSION/SIGNIFICANCE OF IMPACT: We established the prevalence of G6PD deficiency in our medical center. We have also setup tests for point-of-care assessment of G6PD. Pending evaluation of the relative tests performance, we will be in position to screen individuals and select them for a prospective clinical trial to evaluate the safety of antimalarial agents on scope of G6PD deficiency.

Associations among Soil-Transmitted Helminths, G6PD Deficiency and Asymptomatic Malaria Parasitemia, and Anemia in Schoolchildren from a Conflict Zone of Northeast Myanmar.

In tropical areas of developing countries, the interactions among parasitic diseases such as soil-transmitted helminths (STHs) and malaria, and glucose-6-phosphate dehydrogenase deficiency (G6PDd), are complex. Here, we investigated their interactions and impact on anemia in school students residing in a conflict zone of northeast Myanmar. A cross-sectional survey was conducted between July and December 2015 in two schools located along the China-Myanmar border. Stool samples from the schoolchildren were analyzed for STH infections, whereas finger-prick blood samples were analyzed for G6PDd, hemoglobin concentrations, and Plasmodium infections. Among 988 enrolled children, Plasmodium vivax, Plasmodium falciparum, hookworm, Ascaris lumbricoides, and Trichuris trichiura infections occurred in 3.3%, 0.8%, 31.5%, 1.2%, and 0.3%, respectively. Glucose-6-phosphate dehydrogenase deficiency was present in 16.9% of the children, and there was a very high prevalence of anemia (73%). Anthropometric measures performed on all children showed that 50% of the children were stunted and 25% wasted. Moderate to severe anemia was associated with STH infections, stunting, and wasting. In addition, children had increasing odds of anemia with increasing burden of infections. This study revealed a high prevalence of G6PDd, STHs, and anemia in schools located in a conflict zone. In areas where malnutrition and STH infections are rampant, testing for both glucose-6-phosphate dehydrogenase and anemia should be considered before treating vivax malaria with 8-aminoquinolines.

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination.

Cabo Verde aims to eliminate malaria by 2020. In the country, Plasmodium falciparum had been the main parasite responsible for indigenous cases and primaquine is the first line treatment of cases and for radical cure. However, the lack of knowledge of the national prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be one of the constraints to the malaria elimination process. Hence, this first study determines the prevalence of G6PD deficiency (G6PDd) in the archipelago. Blood samples were collected from patients who voluntarily agreed to participate in the study, in the health facilities of eight municipalities on four islands, tested with G6PD CareStart ™ deficiency Rapid Diagnosis Test (RDT). All subjects found to be G6PDd by RDT then underwent enzyme quantification by spectrophotometry. Descriptive statistics and inferences were done using SPSS 22.0 software. A total of 5.062 blood samples were collected, in majority from female patients (78.0%) and in Praia (35.6%). The RDT revealed the prevalence of G6PD deficiency in 2.5% (125/5062) of the general population, being higher in males (5.6%) than in females (1,6%). The highest G6PDd prevalence was recorded in São Filipe, Fogo, (5.4%), while in Boavista no case was detected. The G6PDd activity quantification shown a higher number of partially deficient and deficient males (respectively n = 26 and n = 22) compared to females (respectively n = 18 and n = 7), but more normal females (n = 35) than males (n = 11). According to the WHO classification, most of the G6PDd cases belongs to the class V (34.5%), while the Classes II and I were the less represented with respectively 5.8% and zero cases. This study in Cabo Verde determined the G6PDd prevalence in the population, relatively low compared to other African countries. Further studies are needed to characterize and genotyping the G6PD variants in the country.

Fine Mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency in a Rural Malaria Area of South West Odisha Using the Clinical, Hematological and Molecular Approach.

IntroductionThe aim of the study was to enumerate the clinical, hematological, and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha.MethodsDiagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire. Molecular characterization of G6PD deficiency was done using PCR-RFLP and Sanger sequencing.ResultsA total of 1981 individuals were screened; among them, 59 (2.97%) individuals were G6PD deficient. The analysis revealed that G6PD deficiency was more among males (4.0%) as compared to females (2.3%). Prevalence of G6PD deficiency was significantly higher among tribal populations (4.8%) as compared to non-tribal populations (2.4%) (p=0.012, OR=2.014, 95%CI=1.206–3.365). Twenty four individuals with G6PD deficiency had mild to moderate anemia, whereas 26 G6PD deficient individuals had a history of malaria infection. Among them, 3 (11.5%) required blood transfusion during treatment. Molecular analysis revealed G6PD Orissa as the most common (88%) mutation in the studied cohort. G6PD Kaiping (n=3), G6PD Coimbra (n=2) and G6PD Union (n=1) were also noted in this cohort.ConclusionThe cumulative prevalence of G6PD deficiency in the present study is below the estimated national prevalence. G6PD deficiency was higher among tribes as compared to non-tribes. Clinical significance for G6PD deficiency was noted only in malaria infected individuals. Rare G6PD Kaiping and G6PD Union variants were also present.

Prevalence of and mothers’ knowledge, attitude and practice towards glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice: a cross-sectional study

BackgroundNeonatal jaundice (NNJ) is a frequent complication of glucose-6-phosphate dehydrogenase (G6PD) deficiency.ObjectivesTo estimate the prevalence of G6PD deficiency among neonates with jaundice and to assess mothers’ perception towards G6PD and...

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

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.

Performance of the Access Bio/CareStart rapid diagnostic test for the detection of glucose-6-phosphate dehydrogenase deficiency: Asystematic review and meta-analysis.

To reduce the risk of drug-induced haemolysis, all patients should be tested for glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDd) prior to prescribing primaquine (PQ)-based radical cure for the treatment of vivax malaria. This systematic review and individual patient meta-analysis assessed the utility of a qualitative lateral flow assay from Access Bio/CareStart (Somerset, NJ) (CareStart Screening test for G6PD deficiency) for the diagnosis of G6PDd compared to the gold standard spectrophotometry (International Prospective Register of Systematic Reviews [PROSPERO]: CRD42019110994). Articles published on PubMed between 1 January 2011 and 27 September 2019 were screened. Articles reporting performance of the standard CSG from venous or capillary blood samples collected prospectively and considering spectrophotometry as gold standard (using kits from Trinity Biotech PLC, Wicklow, Ireland) were included. Authors of articles fulfilling the inclusion criteria were contacted to contribute anonymized individual data. Minimal data requested were sex of the participant, CSG result, spectrophotometry result in U/gHb, and haemoglobin (Hb) reading. The adjusted male median (AMM) was calculated per site and defined as 100% G6PD activity. G6PDd was defined as an enzyme activity of less than 30%. Pooled estimates for sensitivity and specificity, unconditional negative predictive value (NPV), positive likelihood ratio (LR+), and negative likelihood ratio (LR-) were calculated comparing CSG results to spectrophotometry using a random-effects bivariate model. Of 11 eligible published articles, individual data were available from 8 studies, 6 from Southeast Asia, 1 from Africa, and 1 from the Americas. A total of 5,815 individual participant data (IPD) were available, of which 5,777 results (99.3%) were considered for analysis, including data from 3,095 (53.6%) females. Overall, the CSG had a pooled sensitivity of 0.96 (95% CI 0.90-0.99) and a specificity of 0.95 (95% CI 0.92-0.96). When the prevalence of G6PDd was varied from 5% to 30%, the unconditional NPV was 0.99 (95% CI 0.94-1.00), with an LR+ and an LR- of 18.23 (95% CI 13.04-25.48) and 0.05 (95% CI 0.02-0.12), respectively. Performance was significantly better in males compared to females (p = 0.027) but did not differ significantly between samples collected from capillary or venous blood (p = 0.547). Limitations of the study include the lack of wide geographical representation of the included data and that the CSG results were generated under research conditions, and therefore may not reflect performance in routine settings. The CSG performed well at the 30% threshold. Its high NPV suggests that the test is suitable to guide PQ treatment, and the high LR+ and low LR- render the test suitable to confirm and exclude G6PDd. Further operational studies are needed to confirm the utility of the test in remote endemic settings.

Recent trends of glucose-6-phosphate dehydrogenase deficiency among saudi population in Riyadh city

G6PD deficiency is associated with erythrocyte deficiency in the X-chromosome enzyme. It causes a hematologic syndrome called hemolytic anemia that connects G6PD deficiency with X-linked condition. In the Middle East, including Saudi Arabia, G6PD deficiency is the most dominant genetic blood disorders. It results in higher rates of mortality and morbidity due to its incurable long-lasting nature and prevalence of physical and psychological incapacities. In this study, an attempt was made to evaluate the prevalence of G6PD deficiency among the Saudi population in Riyadh city. A cross-sectional retrospective study was conducted at King Saud University Medical City in Riyadh, Saudi Arabia. The population of the study comprised randomly chosen males and females who visited the hospital from January 2017 to January 2018. Statistical analyses were performed using SPSS, and descriptive analysis was used to find the frequency of G6PD-deficient patients. Out of the 209 patients, 62.2% were males (n=130) and 37.8% were females (n=79). Twenty males and 6 females were found to have G6PD deficiency, with the male to female ratio being 1:3. Out of the total 130 male participants, 20 patients were found to be enzyme deficient and 6 patients of 79 female patients were found to be G6PD deficient. There were 38.4% (n=10) patients with G6PD level <4 units/gram hemoglobin, 26.9% (n=7) patients had G6PD levels of 4.1–7.0 units/gram hemoglobin, and 34.6% (n=9) patients had >7 units/gram hemoglobin. Among the G6PD patients, 23.07% patients were severely anemic, and 5 (19.2%) patients were reported to have high bilirubin. The present study revealed the G6PD prevalence to be 12.4% among the Saudi population; this value is significantly higher than that found in France, Spain, India, and Singapore. In the Saudi population, males are more vulnerable to G6PD-deficient than females. Hence, attention should be paid to G6PD-deficient patients while prescribing antimalarial medication. Such patients may be advised to avoid certain foods to minimize the risk of having hemolytic episodes.

The probability of a sequential Plasmodium vivax infection following asymptomatic Plasmodium falciparum and P. vivax infections in Myanmar, Vietnam, Cambodia, and Laos

BackgroundAdding 8-aminoquinoline to the treatment of falciparum, in addition to vivax malaria, in locations where infections with both species are prevalent could prevent vivax reactivation. The potential risk of haemolysis under a universal radical cure policy using 8-aminoquinoline needs to be weighed against the benefit of preventing repeated vivax episodes. Estimating the frequency of sequential Plasmodium vivax infections following either falciparum or vivax malaria episodes is needed for such an assessment.MethodsQuarterly surveillance data collected during a mass drug administration trial in the Greater Mekong Subregion in 2013–17 was used to estimate the probability of asymptomatic sequential infections by the same and different Plasmodium species. Asymptomatic Plasmodium infections were detected by high-volume ultrasensitive qPCR. Quarterly surveys of asymptomatic Plasmodium prevalence were used to estimate the probability of a P. vivax infection following Plasmodium falciparum and P. vivax infections.Results16,959 valid sequential paired test results were available for analysis. Of these, 534 (3%) had an initial P. falciparum monoinfection, 1169 (7%) a P. vivax monoinfection, 217 (1%) had mixed (P. falciparum + P. vivax) infections, and 15,039 (89%) had no Plasmodium detected in the initial survey. Participants who had no evidence of a Plasmodium infection had a 4% probability to be found infected with P. vivax during the subsequent survey. Following an asymptomatic P. falciparum monoinfection participants had a 9% probability of having a subsequent P. vivax infection (RR 2.4; 95% CI 1.8 to 3.2). Following an asymptomatic P. vivax monoinfection, the participants had a 45% probability of having a subsequent P. vivax infection. The radical cure of 12 asymptomatic P. falciparum monoinfections would have prevented one subsequent P. vivax infection, whereas treatment of 2 P. vivax monoinfections may suffice to prevent one P. vivax relapse.ConclusionUniversal radical cure could play a role in the elimination of vivax malaria. The decision whether to implement universal radical cure for P. falciparum as well as for P. vivax depends on the prevalence of P. falciparum and P. vivax infections, the prevalence and severity of G6PD deficiency in the population and the feasibility to administer 8-aminoquinoline regimens safely.Trial registration ClinicalTrials.gov Identifier: NCT01872702, first posted June 7th 2013, https://clinicaltrials.gov/ct2/show/NCT01872702. This study was registered with ClinicalTrials.gov under NCT02802813 on 16th June 2016. https://clinicaltrials.gov/ct2/show/NCT02802813

G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq.

The current study initiated to address the effect of glucose-6-phosphate dehydrogenase (G6PD) deficiency on the pathogenesis and the severity of neonatal hyperbilirubinemia (NHB). A total of 100 newborns with moderate to severe indirect hyperbilirubinemia and 50 normal neonates without hyperbilirubinemia had been enrolled in the current case-control study. All enrolled neonates had been tested for ABO and Rh(D) blood grouping, Total serum bilirubin measurement, complete blood count, morphology, reticulocyte counts, direct Coombs' test, and G6PD enzyme assay. From all enrolled hyperbilirubinemic neonates, 16% were G6PD deficient and this displays a statistically significant difference in comparison to controls (only 6% were G6PD deficient). Also, significant difference was found in the level of serum indirect bilirubin among G6PD-deficient neonate in comparison to G6PD nondeficient neonates which had contributed significantly to the difference in the duration of phototherapy and hospitalization among deficient neonate. Despite this, no significant difference found in the onset of presentation, reticulocytes count, and age of neonates between the two groups (G6PD-deficient and G6PD nondeficient neonates). The current study augments the etiological role of G6PD in the causation and severity of NHB in the region; however, in the absence of significant difference in the reticulocytes and the hemoglobin level, the underlying mechanism cannot be backed to the excess hemolysis alone.

Prevalensi defisiensi Glucose-6-Phosphate Dehydrogenase (G6PD) pada anak Sekolah Dasar yang tinggal di daerah endemis malaria di Sulawesi utara

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the most common enzyme disorder in the world with a very high incidence in the tropics and sub-tropics as a result of malaria selection. North Sulawesi is a part of Indonesian archipelago where malaria has been endemic. This study was aimed to examine the prevalence of G6PD deficiency in the region. An observational cross sectional study was conducted on primary school students belong to different ethnic groups. The purposive sampling method was used to select 442 study subjects, age 5-9 years. The G6PDdeficiency screening test was carried out using G6PD-assay kit. The prevalences of G6PDdeficiency male students were 0% in the Minahasans, 7,4%-12,0% in the Sangihenese, and 4,0%10,3% in the Bolaang Mongondownese. The results suggest that the highest prevalence of G6PD deficiency was in the Sangihe ethnic group. Further molecular analysis would be beneficial to study the genetic relationship of those populations with other neighboring population.

Prevalence and distribution of G6PD deficiency: implication for the use of primaquine in malaria treatment in Ethiopia

BackgroundG6PD enzyme deficiency is a common enzymatic X-linked disorder. Deficiency of the G6PD enzyme can cause free radical-mediated oxidative damage to red blood cells, leading to premature haemolysis. Treatment of Plasmodium vivax malaria with primaquine poses a potential risk of mild to severe acute haemolytic anaemia in G6PD deficient people. In this study, the prevalence and distribution of G6PD mutations were investigated across broad areas of Ethiopia, and tested the association between G6PD genotype and phenotype with the goal to provide additional information relevant to the use of primaquine in malaria treatment.MethodsThis study examined G6PD mutations in exons 3–11 for 344 febrile patient samples collected from seven sites across Ethiopia. In addition, the G6PD enzyme level of 400 febrile patient samples from Southwestern Ethiopia was determined by the CareStart™ biosensor. The association between G6PD phenotype and genotype was examined by Fisher exact test on a subset of 184 samples.ResultsMutations were observed at three positions of the G6PD gene. The most common G6PD mutation across all sites was A376G, which was detected in 21 of 344 (6.1%) febrile patients. Thirteen of them were homozygous and eight were heterozygous for this mutation. The G267+119C/T mutation was found in 4 (1.2%) individuals in South Ethiopia, but absent in other sites. The G1116A mutation was also found in 4 (1.2%) individuals from East and South Ethiopia. For the 400 samples in the south, 17 (4.25%) were shown to be G6PD-deficient. G6PD enzyme level was not significantly different by age or gender. Among a subset of 202 febrile patients who were diagnosed with malaria, 11 (5.45%) were G6PD-deficient. These 11 infected samples were diagnosed with Plasmodium vivax by microscopy. Parasitaemia was not significantly different between the G6PD-deficient and G6PD-normal infections.ConclusionsThe prevalence of G6PD deficiency is modest among febrile patients in Ethiopia. G6PD deficiency testing is thus recommended before administrating primaquine for radical cure of P. vivax infected patients. The present study did not indicate a significant association between G6PD gene mutations and enzyme levels.

P3580Impact of glucose-6-phosphate dehydrogenase deficiency on the extent and severity of coronary atherosclerosis in patients with acute coronary syndrome

Abstract Background Studies in animal models and humans suggested that glucose-6-phosphate dehydrogenase (G6PD) deficiency, a genetically inherited condition causing haemolytic anemia, may be considered a risk factor for cardiovascular disease. It is currently unknown whether enzymatic activity may impact the extent and severity of coronary atherosclerosis in patients with acute myocardial infarction. This hypothesis was tested in a cohort of acute coronary syndrome (ACS) patients undergoing invasive management from Northern Sardinia, where the population prevalence of G6PD deficiency is the highest in the Mediterranean area. Methods The study was based on a prospective single-centre registry of consecutive ACS patients undergoing coronary angiography and subsequent percutaneous revascularization between January 2017 and December 2018, in which G6PD activity has been measured quantitatively using a biochemical assay based on G6PD/6GPD ratio in erythrocytes. Subjects were defined as deficient when the ratio was <0.80. The primary endpoint of the study was the severity of coronary artery disease as assessed by the SYNTAX I score at baseline angiography. Results Among the 466 enrolled patients, 41 (9%) showed G6PD deficiency. Patients with G6PD deficiency were less likely to have a history of dyslipidemia (27% vs 50%; p=0.005) or diabetes (12% vs 21%; p=0.105). As expected, at admission patients with deficiency had lower hemoglobin level (12.1 vs 13.7 g/dL; p=0.005) as compared with those without. By angiography, SYNTAX score resulted as 19±9 and 16±9 (p=0.039) in patients with and without G6PD deficiency; while the number of diseased (with >50% stenosis) vessels was 1.9 vs 1.6 (p=0.089) in the 2 study groups. Left main disease was detected in 15% and 7% (p=0.06) patients, respectively. G6PD deficiency emerged as an independent predictor of high SYNTAX score (OR=2.16, 95% CI 1.1–4.5; p=0.037). Angioplasty with coronary stenting of the culprit vessel was performed in all patients, while GP IIb/IIIa inhibitors were used in 30% and 14% (p=0.009) of patients with and without G6PD deficiency. Finally, in-hospital events were similar between the 2 study groups. Conclusions An increased extent and severity of coronary artery disease was observed in ACS patients with G6PD deficiency as compared with those without, despite the lower prevalence of “classic” cardiovascular risk factors.

Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania.

BackgroundPrimaquine is recommended by the World Health Organization (WHO) for radical treatment of Plasmodium vivax malaria. This drug is known to provoke acute hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to lack of data on G6PD deficiency, the use of primaquine has been limited in Africa. In the present study, G6PD deficiency was investigated in blood donors of various ethnic groups living in Nouakchott, a P. vivax endemic area in Mauritania.Methodology/Principal findingsVenous blood samples from 443 healthy blood donors recruited at the National Transfusion Center in Nouakchott were screened for G6PD activity using the CareStart G6PD deficiency rapid diagnostic test. G6PD allelic variants were investigated using DiaPlexC G6PD genotyping kit that detects African (A-) and Mediterranean (B-) variants. Overall, 50 of 443 (11.3%) individuals (49 [11.8%] men and 1 [3.7%] woman) were phenotypically deficient. Amongst men, Black Africans had the highest prevalence of G6PD deficiency (15 of 100 [15%]) and White Moors the lowest (10 of 168, [5.9%]). The most commonly observed G6PD allelic variants among 44 tested G6PD-deficient men were the African variant A- (202A/376G) in 14 (31.8%), the Mediterranean variant B- (563T) in 13 (29.5%), and the Betica-Selma A- (376G/968C) allelic variant in 6 (13.6%). The Santamaria A- variant (376G/542T) and A variant (376G) were observed in only one and two individuals, respectively. None of the expected variants was observed in 8 (18.2%) of the tested phenotypically G6PD-deficient men.ConclusionThis is the first published data on G6PD deficiency in Mauritanians. The prevalence of phenotypic G6PD deficiency was relatively high (11.3%). It was mostly associated with either African or Mediterranean variants, in agreement with diverse Arab and Black African origins of the Mauritanian population.

Glucose-6-Phosphate Dehydrogenase Deficiency among Children Attending the Emergency Department of Yankin Children’s Hospital, Yangon

Yankin Children’s Hospital is one of the tertiary children hospitals in Myanmar, where some oxidative medications are commonly used in the management of illnesses. Paediatrician’s awareness of G6PD status in this population is very important for effective management and prevention of complications in G6PD deficient children. This preliminary study aims to determine the prevalence of G6PD deficiency according to WHO classification among children seeking medical care at Emergency Department of Yankin Children’s Hospital (YKCH). It was a cross-sectional descriptive study on 124 children, aged 1 month to 13 years. G6PD enzyme activity was determined by spectrophotometric assay within 24 hours of sample collection. Randox G6PD quantitative in vitro test kit (Randox Laboratories, Crumlin, UK) was used and G6PD activity was calculated as unit per gram (U/g) of haemoglobin (Hb). For classification of G6PD deficiency, 10% and 60% level of normal enzyme activities were calculated according to the suggestion by World Health Organization (WHO); G6PD activity <10% was defined as severe deficiency and 10-60% was defined as moderate deficiency. According to WHO classification, 18.5% (23/124) of children in this study was classified as G6PD deficient, with 3.2% severe deficiency and 15.3% moderate deficiency. The prevalence of G6PD deficiency in Myanmar children is higher than the previous reported prevalence if quantitative spectrophotometric method is used for diagnosis, detecting more individuals with moderate deficiency. The high prevalence of G6PD deficiency in this study warrants for the need to do neonatal screening to avoid the potentially fatal complications of this disease.