Prevalence Of Glucose-6-phosphate Dehydrogenase Deficiency Research Articles

Comparison of various RBC indices and Glucose 6 phosphate dehydrogenase activity in patients with and without malaria

Introduction and Aim: Malaria is endemic in many parts of India. Glucose 6 phosphate dehydrogenase (G6PD) deficiency is known to protect against malaria. G6PD deficient individuals afflicted with malaria when treated with primaquine, the first line oxidant drug of malaria, encounter adverse to fatal complications due to acute precipitation of hemolytic anemia. There is a need to assess RBC indices in malaria, its implications in G6PD deficiency, and its acute manifestations. The aim of this study was to compare and correlate various RBC indices and G6PD activity in patients with and without malaria and to find a prevalence of G6PD deficiency in a tertiary care hospital. Materials and Methods: The present study was carried out by the Biochemistry Department of Kasturba Medical College, Manipal in 363 participants (with malaria and without malaria). Mann Whitney U test and Spearman’s Rank correlation were employed to assess group differences and correlation, respectively. Results: 218 cases of malaria in 365 days from a tertiary care hospital in South India is an alarming incidence and annuls the fact that the malaria prevalence is relatively low in South India. Complete blood counts and red blood indices did not show any statistically significant difference between the study groups. No statistically significant correlation was found between G6PD activity and RBC indices in the present study. Conclusion: No significant differences between hematological indicators and malaria with or without G6PD deficiency hint towards the necessity of G6PD tests for radical treatment of malaria as hematological indices are unable to predict the defective enzyme activity.

Prevalence of G6PD deficiency and distribution of its genetic variants among malaria-suspected patients visiting Metehara health centre, Eastern Ethiopia

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) is cytosolic enzyme, which has a vital role for the integrity and functioning of red blood cells. Lower activity of this enzyme leads to the occurrence of acute haemolytic anaemia after exposure to oxidative stressors like primaquine. Primaquine is an important drug for the radical cure of Plasmodium vivax and blocking transmission of Plasmodium falciparum, and thereby enhancing malaria elimination. However, there is a need to identify G6PD deficient individuals and administer the drug with caution due to its haemolytic side effects. The main objective of this study is to determine the prevalence of G6PD deficiency among malaria-suspected individuals.MethodsA facility-based cross-sectional study was conducted from September 2020 to September 2021 in Metehara Health Centre, Eastern Ethiopia. A structured questionnaire was used to collect the socio-demographic and clinical information of the study participants. Capillary and venous blood samples were collected based on standard procedures for onsite screening, dried blood spot preparation, and malaria microscopy. The G6PD enzyme activity was measured by careSTART™ G6PD biosensor analyzer. Data was entered and analysed by SPSS.ResultsA total of 498 study participants were included in the study, of which 62% (309) were males. The overall prevalence of G6PD deficiency based on the biosensor screening was 3.6% (18/498), of which 2.9% and 4.8% were males and females, respectively. Eleven of the G6PD deficient samples had mutations confirmed by G6PD gene sequencing analysis. Mutations were detected in G267 + 119C/T, A376T, and ChrX:154535443. A significant association was found in sex and history of previous malaria infection with G6PD deficiency.ConclusionsThe study showed that the G6PD deficient phenotype exists in Metehara even if the prevalence is not very high. G267 + 119C/T mutation is the predominant G6PD variant in this area. Therefore, malaria patient treatment using primaquine should be monitored closely for any adverse effects.

A comparative study between glucose 6-phosphate dehydrogenase deficient and normal term neonates with indirect hyperbilirubinemia in a rural tertiary care hospital of Eastern India

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an important cause of neonatal indirect hyperbilirubinemia or even kernicterus leading to long-term neurological sequelae specially in countries like India where G6PD deficiency is quite prevalent. Aims and Objectives: We have planned this study to know the prevalence of G6PD deficiency among cases of neonatal jaundice and also to evaluate the difference between G6PD deficient and normal neonates with indirect hyperbilirubinemia in terms of laboratory parameters and need of phototherapy or exchange transfusion. Materials and Methods: This observational and cross-sectional study was done for a period of 1 year in the SNCU and NICU of a district Medical College of West Bengal among 200 term neonates presented with indirect hyperbilirubinemia. Birth weight, sex, hemoglobin, G6PD level, serum bilirubin at admission, phototherapy duration, and need for exchange transfusion were recorded along with other necessary parameters. Results: We found G6PD deficiency in 24 neonates (12%) out of 200 cases of neonatal jaundice, 20 of whom were male. There is a statistically significant difference in hemoglobin and serum bilirubin level between two groups. Difference in early presentation of jaundice within 24–48 h (66.7% vs. 34.1%) and need of prolonged phototherapy 72–96 h (45.83% vs. 7.4%) between G6PD deficient and normal group were statistically significant. Difference in requirement of exchange transfusion is not statistically significant. Conclusion: Early screening for G6PD deficiency should be considered in every neonates of G6PD deficient endemic countries so that we can predict the natural course of the jaundice in those G6PD deficient neonate and prevent complication by early initiation of phototherapy or exchange transfusion.

Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand

BackgroundGlucose 6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PKLR) deficiencies are common causes of erythrocyte haemolysis in the presence of antimalarial drugs such as primaquine and tafenoquine. The present study aimed to elucidate such an association by thoroughly investigating the haematological indices in malaria patients with G6PD and PKLRR41Q variants.MethodsBlood samples from 255 malaria patients from Thailand, Myanmar, Laos, and Cambodia were collected to determine haematological profile, G6PD enzyme activity and G6PD deficiency variants. The multivariate analysis was performed to investigate the association between anaemia and G6PD MahidolG487A, the most common mutation in this study.ResultsThe prevalence of G6PD deficiency was 11.1% (27/244) in males and 9.1% (1/11) in female. The MAFs of the G6PD MahidolG487A and PKLRR41Q variants were 7.1% and 2.6%, respectively. Compared with patients with wildtype G6PD after controlling for haemoglobinopathies, G6PD-deficient patients with hemizygous and homozygous G6PD MahidolG487A exhibited anaemia with low levels of haemoglobin (11.16 ± 2.65 g/dl, p = 0.041). These patients also exhibited high levels of reticulocytes (3.60%). The median value of G6PD activity before treatment (Day 0) was significantly lower than that of after treatment (Day 28) (5.51 ± 2.54 U/g Hb vs. 6.68 ± 2.45 U/g Hb; p < 0.001). Reticulocyte levels on Day 28 were significantly increased compared to that of on Day 0 (2.14 ± 0.92% vs 1.57 ± 1.06%; p < 0.001). PKLRR41Q had no correlation with anaemia in malaria patients. The risk of anaemia inpatients with G6PDMahidolG487A was higher than wildtype patients (OR = 3.48, CI% 1.24–9.75, p = 0.018). Univariate and multivariate analyses confirmed that G6PDMahidolG487A independently associated with anaemia (< 11 g/dl) after adjusted by age, gender, Plasmodium species, parasite density, PKLRR41Q, and haemoglobinopathies (p < 0.001).ConclusionsThis study revealed that malaria patients with G6PD MahidolG487A, but not with PKLRR41Q, had anaemia during infection. As a compensatory response to haemolytic anaemia after malaria infection, these patients generated more reticulocytes. The findings emphasize the effect of host genetic background on haemolytic anaemia and the importance of screening patients for erythrocyte enzymopathies and related mutations prior to anti-malarial therapy.

Prevalence of glucose-6-phosphate dehydrogenase deficiency in newly diagnosed HIV patients: a hospital-based cross-sectional study

Background: The prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency is 8.5% in India. G6PD deficient individual have different outcomes with certain drugs and result in unexpected events that could be even fatal. HIV affected individuals with G6PD deficient have inherently worse outcomes when they start on those drugs that precipitate the condition. We aimed to study the level of G6PD and its deficiency status among the newly diagnosed HIV patients.Methods: A cross-sectional study among the newly diagnosed HIV patients was conducted at a tertiary hospital, Kolkata. All the eligible participants (n=100) were recruited consecutively after obtaining the consent. The details on socio-demography, clinical history and investigations were extracted from them. The data were analysed using the appropriate statistical methods.Results: Out of 100 newly HIV diagnosed participants, the prevalence of G6PD deficiency was 12% (95% CI: 5.6- 18.3%). Participants belonging to tribal population, with familial history of haemolytic disease, history of haemolysis, and increased LDH levels were significantly associated with the deficient G6PD levels among the study participants. Conclusions: The prevalence of G6PD deficiency was high among the newly diagnosed HIV study population. Tribal population and familial history of haemolytic disorders had high number of deficiency and need to be screened for better clinical care.

Risk of hemolysis in Plasmodium vivax malaria patients receiving standard primaquine treatment in a population with high prevalence of G6PD deficiency.

Primaquine is essential for the radical cure of Plasmodium vivax malaria, but it poses a potential danger of severe hemolysis in G6PD-deficient (G6PDd) patients. This study aimed to determine whether primaquine is safe in a population with high G6PD prevalence but lacking G6PD diagnosis capacity. In Myanmar, 152 vivax patients were gender- and age-matched at 1:3 for G6PDd versus G6PD-normal (G6PDn). Their risk of acute hemolysis was followed for 28days after treatment with the standard chloroquine and 14-day primaquine (0.25mg/kg/day) regimen. Patients anemic and non-anemic at enrollment showed a rising and declining trend in the mean hemoglobin level, respectively. In males, the G6PDd group showed substantially larger magnitudes of hemoglobin reduction and lower hemoglobin nadir levels than the G6PDn group, but this trend was not evident in females. Almost 1/3 of the patients experienced clinically concerning declines in hemoglobin, with five requiring blood transfusion. The standard 14-day primaquine regimen carries a significant risk of acute hemolytic anemia (AHA) in vivax patients without G6PD testing in a population with a high prevalence of G6PD deficiency and anemia. G6PD testing would avoid most of the clinically significant Hb reductions and AHA in male patients.

Prevalence of Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Jiroft City in Southern Iran

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a global problem and the most common cause of jaundice in neonates. Hence, this study was conducted to investigate the prevalence of G6PD deficiency in Jiroft city in southern Kerman. Materials and Methods: This descriptive cross-sectional study was carried out from 2016 to 2019. Blood samples were taken from all patients referred to Imam Hospital in Jiroft city in southern Iran. The G6PD enzyme activity was evaluated by a fluorescent spot test. Results and Conclusions: In the present study, a total of 7791 newborns were included. Abnormal activity of G6PD was seen in 779 (10%) subjects. Out of 779 patients, 728 (9.4%) were found to be G6PD deficient, and 49 (0.6%) exhibited partial deficiency. A relatively high percentage of G6PD deficiency was seen in newborns of Jirof city. We strongly recommend screening for G6PD enzyme activity in all newborns in this city.

Infections in G6PD-Deficient Hospitalized Patients-Prevalence, Risk Factors, and Related Mortality.

G6PD deficiency is a genetic disease that weakens the immune system and renders affected individuals susceptible to infections. In the Sultanate of Oman resides a high number of recorded G6PD cases due to widespread consanguineous marriage, which may reach 25% of the population. We studied the infection patterns and risk factors for mortality to provide antimicrobial stewardship recommendations for these patients. After obtaining ethical approval, a registry of recorded cases was consulted retrospectively to include G6PD-deficient adult patients admitted to Suhar hospital over 5 years with microbiologically confirmed infections. Patient demographics, health-related information, infection causes, treatment, and clinical outcomes were studied. Data were analyzed to describe infection patterns and risk factors. Several variables, including underlying comorbidities and hospitalization details, such as length of stay, admission to critical care unit, blood transfusion, or exposure to an invasive procedure, were statistically associated with the acquisition of multidrug-resistant and hospital-acquired infections. Meanwhile, these infections were associated with a high mortality rate (28%), significantly associated with the patient’s health status and earlier exposure to antimicrobial treatment due to previous bacterial infection. The high prevalence of G6PD deficiency among the Omani population should alert practitioners to take early action when dealing with such cases during infection that requires hospitalization. Strict infection control measures, Gram-negative empiric coverage, hospital discharge as early as possible, and potent targeted antimicrobial therapy in this patient population can ameliorate the treatment outcomes and should be emphasized by the antimicrobial stewardship team.

Glucose-6-Phosphate Dehydrogenase Deficiency and its Association with Malaria in the Administrative Divisions of Lagos State, Nigeria

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of red blood cells' most common inherited enzyme disorders. It is currently believed to affect approximately 500 million individuals worldwide. The deficiency could result in several hematological conditions, including acute hemolytic anemia, neonatal jaundice, and kernicterus. Aim: This study aimed to determine the prevalence of G6PD deficiency in the five administrative divisions of Lagos State. The association between malaria and G6PD deficiency was also investigated. Materials and Methods: A total of 105 participants, comprising 63 (60%) males and 42 (40%) females, were recruited from five locations for this study. Two milliliters of venous blood were collected and divided into three portions for G6PD enzyme assay, hematological parameter, and malaria diagnosis. G6PD enzyme level was determined using a quantitative spectrophotometric assay, whereas the malaria parasite was examined using microscopy and rapid diagnostic test kits. Results: An overall prevalence of G6PD deficiency was 21%. There was no significant difference in prevalence between males (22.2%) and females (19%), whereas a marginally higher G6PD activity in males (10.15 ± 0.50 vs. 8.61 ± 0.31 U/g Hb) (P &lt; 0.05) was recorded. Although there were slight differences in prevalence obtained in the five sampling locations, however, the one-way analysis of variance of the G6PD activity levels showed no significant difference between any pairs (P = 0.05). Furthermore, the results obtained from this study showed no association between malaria and G6PD deficiency (χ 2 = 1.432, P = 0.231). Conclusions: The study found a relatively high prevalence of G6PD deficiency in the Nigerian subpopulation, indicating that G6PD deficiency is common in this environment. This emphasizes the need for a quantitative G6PD assay as part of laboratory investigations for those presenting with an episode of acute hemolytic anemia in this geographical region of the country.

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency among hospitalized Children at tertiary care Hospital in Eastern Part of Nepal

Introduction: Glucose 6 phosphate dehydrogenase deficiency is the most significant enzyme defect. It is X linked inherited disorder that affects males and females are rarely affected by lyonization. Severe jaundice, anemia and hemolytic crisis following ingestion of fava beans and certain drugs are known to occur in children with G6PD deficiency. Therefore, routine neonatal and child screening programs to facilitate the identification and effective management of children with G6PD deficiency is paramount.&#x0D; Objective: The main objective of this study is to find out the hospital prevalence of G6PD deficiency in hospitalized children at Birat Medical College teaching Hospital.&#x0D; Methodology: This is a hospital based cross sectional study carried out in the Department of Paediatric, Birat Medical College Teaching Hospital from30th November 2020 to 30th May 2021. Three hundred children upto to ten years of age admitted in department of pediatrics were included in this study. This study was performed on hospitalized children who were screened for G6PD deficiency. The test was carried out using the Randox G6PD quantitative in vitro test to determine the prevalence of G6PD deficiency among the admitted children upto 10 years of age.Data was analysed using SPSS version 16.&#x0D; Results: This study was performed on 300 children, in which male babies (n=192; 64%) outnumbered the female babies (n=108; 36%). The majority of children were in the age group of &lt; 1 years (n=131; 43.7%).The overall prevalence of G6PD deficiency was 9.3% of which 96.4% were moderately deficient while 3.6% was severely deficient.The highest proportion was noted in the age group of 1 to 5 years. The frequency of this disorder in males and females were 13.5% and 1.9% respectively which was statistically significant (p=0.001).&#x0D; Conclusion: The present study confirms the high prevalence of G6PD deficiency in Eastern Region of Nepal. Therefore, we need to establish routine screening and educational programs in order to prevent grave complications in future.

Prevalence of glucose 6-phosphate dehydrogenase deficiency in highly malaria-endemic municipalities in the Brazilian Amazon: A region-wide screening study

Difficulties associated with the assessment of glucose-6-phosphate dehydrogenase deficiency (G6PDd), particularly in remote areas, hinders the safe use of 8-aminoquinolines such as primaquine (PQ) and tafenoquine against Plasmodium vivax malaria due to the risk of haemolysis. This cross-sectional study was conducted in 41 malaria-endemic municipalities of six states in the Brazilian Amazon, between 2014 and 2018. Male individuals were screened for G6PDd using the qualitative Fluorescent Spot Test using fingerpick-collected whole blood samples. Point and interval estimates of the G6PDd prevalence were calculated for each state. Deficient samples were genotyped for the most prevalent variants in the Amazon. Frequencies of P. vivax malaria recurrences were estimated for G6PDd and non-G6PDd patients. This is one of the largest surveys ever conducted in Latin America, covering the entire malaria endemic area in the Brazilian Amazon. These results indicate that an important proportion of the population is at risk of hemolysis if exposed to PQ and its congener drug tafenoquine. The adoption of G6PDd screening protocols is essential to ensure the safety of individuals treated with those drugs and should also be considered when implementing malaria elimination strategies. A total of 14,847 individuals were included, of which 5.6% presented G6PDd. The state of Acre had the highest G6PDd prevalence (8.3%), followed by Amapá (5.8%), Pará (5.7%), Rondônia (5.4%), Roraima (4.2%) and Amazonas (4.0%). From 828 genotyped samples, African A+ (6.2%), African A- (39.3%) and wild-type (non-African non-Mediterranean; 54.2%) variants were found. A greater proportion of malaria recurrences was found among G6PD deficient individuals [16.7% vs 4.1%, Risk ratio 3.52 (2.16-5.74) p<0.01]. Brazilian Ministry of Health; Fundação de Amparo à Pesquisa do Estado do Amazonas (FAPEAM).

Molecular Detection of Glucose-6-Phosphate Dehydrogenase Deficiency in Katsina State, Northern Nigeria

Aims: To determine the prevalence of glucose-6-phosphate dehydrogenase deficiency and its variant (G6PD A-) among children diagnosed with Plasmodium falciparum malaria in Katsina state, Nigeria.&#x0D; Study Design: Cross-Sectional Studies.&#x0D; Place and Duration of Study: General Hospitals Katsina, Dutsin-ma, Daura, Baure, Malumfashi and Funtua of Katsina state, Nigeria from June, 2020 to December, 2020.&#x0D; Methodology: A total of 200 blood samples were collected from the study subjects after getting the ethical approval and informed consent. Their socio-demographic information and clinical presentations were also noted with the aid of questionnaire. G6PD deficiency was detected using G6PD qualitative test. Molecular characterization of African A- Variants was carried out using PCR and Sanger sequencing. Phylogenetic studies were carried out to analyze the relationship between the types of mutations found in Nigeria and other countries.&#x0D; Results: The G6PD qualitative test shows that 35(17.5%) samples were G6PD deficient which indicates significant association (P&lt;0.05) between G6PD and malaria. The PCR and sequence analysis of the 35 G6PD deficient samples shows the presence of G202A mutations in only 7(20.0%) samples. However, the BLAST analysis of the nucleotide sequences has shown 98.73% - 100% homology with other sequences of G6PD from the NCBI database. The bioinformatics analysis revealed G6PD mutations which indicate a Guanine to Adenine mutations at amino acid number 68 substitution of valine to methionine.&#x0D; Conclusion: This study has shown a high prevalence of G6PD deficiency among children diagnosed with Plasmodium falciparum malaria in Katsina State, North-western Nigeria. Polymerase Chain Reaction, NCBI blast, Phylogenetic and Bioinformatics analysis of the deficient samples shows that G202A mutation in relation to the deficient children was not statistically significant (p&gt;0.05), hence does not appear to have a role in G6PD deficiency among children in the selected area of Katsina state, Nigeria though our findings were limited by the small sample size.

Nitrofurantoin and glucose-6-phosphate dehydrogenase deficiency: a safety review.

Nitrofurantoin, a broad-spectrum antibiotic available since 1953, is used widely for the treatment of urinary tract infections as it often retains activity against drug-resistant uropathogens. It is contraindicated in pregnant women at term, and in neonates. Like trimethoprim/sulfamethoxazole, nitrofurantoin carries a warning for patients with known sensitivity to oxidant drugs, notably glucose-6-phosphate dehydrogenase (G6PD) deficiency, in whom it may cause haemolytic anaemia. This is a barrier to uptake in tropical regions where there is a high burden of antimicrobial resistance and where G6PD deficiency is common. Early studies of erythrocyte survival following nitrofurantoin suggest it is less likely to cause oxidant haemolysis in individuals with G6PD deficiency than primaquine. Here we review reports of haemolysis associated with nitrofurantoin from the published literature and from USA (FDA Adverse Event Reporting System; FAERS) and European (VigiBase) pharmacovigilance databases. In total, 318 episodes of haemolytic anaemia were reported and 10 deaths, with 42 (13%) in individuals with confirmed or highly probable G6PD deficiency, out of at least 245 million exposures. A causal link between death and exposure was not reported and a precise risk estimation in G6PD-deficient individuals was not possible as there are few reports from regions where this enzymopathy is most prevalent. The evidence suggests a total daily dose of 200 mg nitrofurantoin may be used for short (3–5 day) course urinary tract infection treatment without G6PD screening when accompanied by appropriate advice. Pharmacovigilance in countries with high prevalence of G6PD-deficiency is recommended to monitor for serious adverse events.

Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province

ABSTRACT Objectives The characteristic of glucose-6-phosphate dehydrogenase (G6PD) deficiency is red blood cell (RBC) destruction in response to oxidative stress. Patients requiring RBC transfusions may simultaneously receive oxidative medications or have concurrent infections, both of which can induce hemolysis in G6PD-deficient RBCs. We intend to investigate the incidence of G6PD deficiency in voluntary blood donors and to evaluate the transfusion risk associated with G6PD deficiency in Guangdong province. Methods G6PD enzyme was analyzed in 3042 donors and gene mutations were genotyped in G6PD-deficient samples. Results The G6PD-deficient prevalence of voluntary blood donors was 6.97% (212/3042), 55.19% blood donors with G6PD deficiency donated blood more than twice. Eighty-five cases of G6PD deficiency were genotyped, and the common types of G6PD mutations were c.1376 G > T, c.1388 G > A, c.95 A > G, c.1024 C > T, and c.871 G > A. Conclusions Due to the high prevalence of G6PD deficiency in Foshan area, we recommended that the screening of G6PD deficiency should be carried out for the regular blood donors to ensure the safety of blood users.

Prevalence of G6PD deficiency in Thai blood donors, the characteristics of G6PD deficient blood, and the efficacy of fluorescent spot test to screen for G6PD deficiency in a hospital blood bank setting

ABSTRACT Background Transfusion of blood from glucose-6-phosphate dehydrogenase (G6PD) enzyme deficient donors could cause a potentially unfavorable outcome, especially in newborns and those with hemoglobinopathies. Aims To determine the prevalence of G6PD deficiency in Thai blood donors, the characteristics of G6PD deficient blood, and the efficacy of fluorescent spot test (FST) to screen for G6PD deficiency in a hospital blood bank setting. Methods Blood samples were obtained from 514 Thai blood donors who donated blood at Siriraj Hospital (Bangkok, Thailand) during December 2020-February 2021. G6PD deficiency status was screened using FST, and in vitro hemolysis of red blood cell parameters of G6PD deficient blood units was compared with those of normal control units at different time points during 35 days of refrigerated storage. Results The prevalence of G6PD deficiency was 7.59% (35 [8.73%] males, 4 [3.54%] females). The sensitivity of FST was 100% (95% confidence interval [CI]: 90.97-100%), and the specificity was 99.58% (95%CI: 98.49-99.95%). In vitro hemolysis was not significantly different between G6PD deficiency and normal controls. Conclusion The prevalence of G6PD deficiency in this study was 7.59%. FST was demonstrated to be an effective and reliable method for G6PD deficiency screening among Thai blood donors in a hospital blood bank setting.

Glucose-6-phosphate dehydrogenase deficiency is more prevalent in Duffy-null red blood cell transfusion in sickle cell disease.

Resistance to malaria infection may be conferred by erythrocyte genetic variations including glucose-6-phosphate dehydrogenase (G6PD) deficiency and lack of Duffy antigens. In red blood cell (RBC) transfusion, G6PD deficiency may shorten transfusion survival. Because Duffy-null units are commonly transfused in sickle cell disease (SCD) due to antigen matching protocols, we examined whether Duffy-null donor RBC units have a higher prevalence of G6PD deficiency. Pediatric patients with SCD on chronic transfusion therapy were followed prospectively for multiple transfusions. RBC unit segments were collected to measure G6PD activity and RBC genotyping. The decline in donor hemoglobin (ΔHbA) following transfusion was assessed from immediate posttransfusion estimates and HbA measurements approximately 1month later. Of 564 evaluable RBC units, 59 (10.5%) were G6PD deficient (23 severe, 36 moderate deficiency); 202 (37.6%) units were Duffy-null. G6PD deficiency occurred in 40 (19.8%) Duffy-null units versus 15 (4.5%) Duffy-positive units (p < .0001). In univariate analysis, the fraction of Duffy-null RBC units per transfusion was associated with greater decline in HbA (p=.038); however, in multivariate analysis, severe G6PD deficiency (p=.0238) but not Duffy-null RBC (p=.0139) were associated with ΔHbA. Selection of Duffy-null RBC units may result in shorter in vivo survival of transfused RBCs due to a higher likelihood of transfusing units from G6PD deficient donors.

Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Eastern India

Introduction: The overall magnitude of the frequency of G6PD deficiency ranges between 0 to 10 percent in the Indian population. This prospective study was planned to estimate the prevalence of G6PD deficiency in newborn population born in a tertiary care centre in Eastern India. Methods: This prospective observational study was undertaken among all consecutively delivered neonates born in a tertiary care teaching hospital of Eastern India, between Apr 2016 and Oct 2017. Prematurity less than 32 weeks and perinatal asphyxia requiring extensive resuscitation were excluded from the study. Umbilical cord blood samples were collected in a EDTA containers, drawn from the placental side of the umbilical cord incised while severing it at the time of birth. The G6PD levels were estimated quantitatively based on ultraviolet (UV) method by quantitative sphectrophotometric assay using ILab 650 fully automated analyzer. All babies wherein the cord blood G6PD levels was less than 6.95 mU/g of Hb was taken as deficient. Results: Mean (SD) of G6PD at birth was 12.56 (3.45) mU/g of Hb. Out of 1037 neonates, five were found to be G6PD deficient. There was increased incidence of neonatal jaundice requiring phototherapy in G6 PD deficient neonates, and it was statistically significant. Conclusion: The prevalence of G6PD deficiency was 0.48% in term and late preterm neonates as assessed quantitatively in cord blood

Prevalence of sickle cell anemia, β-thalassemia and glucose-6-phosphate dehydrogenase deficiency among the tribal population residing in the Aravali hills of Sirohi region of Rajasthan state

ObjectiveThe tribal population in India constitutes nearly 8.6% of its total population. Haemoglobinopathies is widely prevalent among the tribal population than the non-tribal communities in India. Due to its wide prevalence, haemoglobinopathies is a major cause of concern for the tribal health research in India. The present study was under taken to investigate the spectrum of hemoglobinopathies, in particular sickle cell anemia (SCA), among the primitive tribal groups of India. MethodsThis is a cross sectional community based study and carried out in the Abu Road Block of Sirohi District. The study was conducted through medical camp at schools and villages. The screening of SCA, β-thalassemia and G6PD deficiency were carried out using solubility, NESTROFT and DPIP methods respectively. Confirmatory test for SCA and β-thalassemia was done by using CE-HPLC (Bio-Rad). The confirmatory test of G6PD deficiency was conducted through enzymatic assay. ResultsA total of 7167 tribal individuals were screened for SCA and out of which 610 individuals were found to be SCA positive with a prevalence of 8.51%. The prevalence of β-thalassemia was recorded as 7.25%. The prevalence of SCA was found to be higher in Garasia tribes and β-thalassemia prevalence was higher in the Bhil community. The prevalence of G6PD deficiency was found to be 2.88%. ConclusionSCA, β-thalassemia and G6PD deficiency were prevalent among the tribal population of Rajasthan residing in the Aravali Hills of Sirohi. Mass screening and management of SCA is essential to ensure improve quality of life of affected tribal individuals.

Prevalence of Glucose-6-phosphate Dehydrogenase Deficiency in Aligarh, India: A Pilot Study

Introduction: Deficiency of glucose-6-phosphate dehydrogenase (G6PD) enzyme in erythrocytes is among the prevalent X-linked recessive genetic disorders and affects approximately 400 million people across the globe. It causes neonatal hyperbilirubinemia, also hemolysis eventually leading to hemolytic anemia when exposed to oxidative stress. Purpose: The purpose of the study was to find out the prevalence of G6PD deficiency in Aligarh (Western Uttar Pradesh) India. Materials and Methods: The data and samples were collected from a total of 106 individuals. All the required information were recorded in a standardized questionnaire, blood was taken with their prior consent. Blood typing test and fluorescent spot test (FST) were performed, spots were arranged accordingly and observed. Results: Out of total 106 individuals surveyed, 10% of them were found to be deficient for G6PD enzyme, 5% were intermediate, and 85% were normal. Significant association was found for G6PD deficiency and gender (P &lt; 0.05) of the individuals while non-significant association were reported for G6PD deficiency and consanguinity (P &lt; 0.8) and for G6PD deficiency and blood groups (P &lt; 0.9). Conclusion: FST is a good method for G6PD screening and detecting the deficiency in fields. This pilot study highlights the prevalence of G6PD enzymopathy in Aligarh and will help government programs of this area to prevent and control the genetic disorder

A Profile of Glucose-6-Phosphate Dehydrogenase Variants and Deficiency of Multicultural Families in Korea.

Vivax malaria incidence in Korea is now decreased and showing a low plateau. Nowadays, vivax malaria in Korea is expected to be successfully eliminated with anti-malaria chemotherapy, primaquine, and vector control. The glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with potential hemolytic anemia after primaquine administration. This inborn disorder has a pivotal polymorphism with genetic variants and is the most prevalent X-chromosome-linked disorder. The prevalence of G6PD deficiency was previously reported negligible in Korea. As the population of multicultural families pertaining marriage immigrants and their adolescents increases, it is necessary to check G6PD deficiency for them prior to primaquine treatment for vivax malaria. The prevalence of G6PD variants and G6PD deficiency in multicultural families was performed in 7 counties and 2 cities of Jeollanam-do (Province), Gyeonggi-do, and Gangwon-do. A total of 733 blood samples of multicultural family participants were subjected to test the phenotypic and genetic G6PD deficiency status using G6PD enzyme activity quantitation kit and PCR-based G6PD genotyping kit. The G6PD phenotypic deficiency was observed in 7.8% of male adolescent participants and 3.2% of materfamilias population. Based on the PCR-based genotyping, we observed total 35 participants carrying the mutated alleles. It is proposed that primaquine prescription should seriously be considered prior to malaria treatment.