Glucose-6-phosphate Dehydrogenase Deficiency Research Articles

Wound Healing Potential of Different Extracts of Ehretia Laevis Roxb. (Khandu Chakka/Ajan Vruksha) Versus Silver Sulfadiazine in Burn Wound - Pre-Clinical Study

Burns are also a leading cause of morbidity; millions who survive suffer from lifelong disability and disfigurements with resulting emotional trauma and stigma. To identify the effective extract of Charma Vruksha( Ehretia Laveis Roxb.) in burn wound management and to generate empirical evidence for substantiation of burn wound healing by Kashaya Rasa ( Astringent taste) through experimental demonstration of the comparative wound healing property of Charma Vruksha ( Ehretia Laevis Roxb.) this study was planned. This study is useful in broadening of therapeutic aspect of Charma Vruksha( Ehretia Laveis Roxb.) plant. This is contribution to the literature related to ayurvedic sciences. The stated side effects of silver sulfadiazine like pain, burning, itching, rash, cell death, destruction of red blood cells (in patients with G6PD deficiency), deficiency of granulocytes in the blood, low blood platelet count, low white blood cell count , can be minimized to some extent by the use of Charma Vruksha( Ehretia Laveis Roxb.) plant leaves. Wound healing measured by histology score and wound contracture percentages. Average wound contracture percentage was 36.83 % in Crude Extract group, 33.75% in Ethanol Extract group, 34.6 % in Chloroform Extract group , 42.41% in Aqueous Extract group, as compared to 38.08 % of Silver sulfadiazine. Histological score was 16 in Crude Extract group, 15 in Ethanol Extract group,15 in Chloroform Extract group , 16 in Aqueous Extract group as compared to 18 of Silver sulfadiazine. Aqueous Extract was more effective in burn wound contracture by 11.37 % than Silver sulfadiazine Crude and Aqueous extract was more effective than ethanol and chloroform extract by 1 histological score but less effective by 2 histological score than Silver sulfadiazine.
 Aqueous Extract is more efficacious in burn wound contracture by 11.37 % than Silver sulfadiazine.

Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.

Glucose-6-phosphate dehydrogenase (G6PD) is a the first and rate-limiting enzyme that plays a critical role in G6PD deficiency, the most common enzyme disorder worldwide, is related to intravascular hemolysis. To determine the clinical enzyme activity level in different G6PD variants, we evaluated 15 variant from 424 clinical blood samples by using multicolor melting curve analysis and DNA sequencing. The results showed that the enzyme activities of the hemizygous deficient were 1.5-2.4 U/gHb, which was significantly lower than those of the heterozygous (P < 0.001) and the compound heterozygous variants (P < 0.05). Since the hemizygous of c.1024C > T (Chinese-5) mutation affects the kinetic parameters of G6PD and increase utilization of analogues, its enzyme activity is more than those of other mutations that mutated in the β+α region of G6PD. The heterozygous enzyme levels ranged from 6.5-20.1 U/gHb; and there was no significant difference among different heterozygous variants (P > 0.05). The enzyme activity levels of the compound heterozygous mutation were mainly in the range of 1.7-3.8 U/gHb, which was much lower than that of the heterozygous mutation (P < 0.001). In summary, our findings revealed that the enzyme activity of G6PD in blood have a significant relationship with genotype of G6PD.

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais

BackgroundPeople with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive and X-linked conditions in couples seeking to learn about their risk of having children with these disorders to have an appropriate reproductive plan.MethodsWe analyzed the exome sequencing data of 1,642 unrelated Thai individuals to identify the pathogenic variant (PV) frequencies in genes recommended by ACMG.ResultsIn the 113 ACMG-recommended genes, 165 PV and likely PVs in 60 genes of 559 exomes (34%, 559/1642) were identified. The carrier rate was increased to 39% when glucose-6-phosphate dehydrogenase (G6PD) was added. The carrier rate was still as high as 14.7% when thalassemia and hemoglobinopathies were excluded. In addition to thalassemia, hemoglobinopathies, and G6PD deficiency, carrier frequencies of > 1% were found for Gaucher disease, primary hyperoxaluria, Pendred syndrome, and Wilson disease. Nearly 2% of the couples were at risk of having offsprings with the tested autosomal recessive conditions.ConclusionsBased on the study samples, the expanded carrier screening, which specifically targeted common autosomal recessive conditions in Thai individuals, will benefit clinical outcomes, regarding preconception/prenatal genetic carrier screening.

Glucose-6-phosphate dehydrogenase enzyme deficiency as a diagnostic factor of diabetes mellitus: An original study.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common genetic disorders affecting approximately 400 million people worldwide. Several recent studies have reported a relationship between G6PD deficiency and the incidence of diabetes. The aim of the present study was to evaluate and compare levels of G6PD deficiency in diabetes mellitus patients. G6PD activity and fasting glucose levels were measured in blood samples of 49 diabetic patients and 21 healthy controls. G6PD activity was decreased in patients with diabetes mellitus as compared to healthy controls and showed that overall G6PD deficiency was significantly associated with diabetes mellitus as compared to nondiabetics. The study concluded that G6PD deficiency is noted in diabetics than in nondiabetics and can be a biomarker of oxidative stress and poor glycemic control in diabetes mellitus.

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Objectives. To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. Methods. Between 2002 and 2017, dried blood spots of newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, galactosemia, cystic fibrosis, and glucose-6-phosphate dehydrogenase (G6PD) deficiency via immunofluorescence and amino and fatty acid disorders and organic acidemias using tandem mass spectrometry. Frequency rates were determined. Results. Overall, 192 487 samples were processed; 99.4% had negative results, and 598 were diagnosed. The frequency was 3.01/1000 newborns. G6PD deficiency, CH, amino acidemia, organic acidemia, cystic fibrosis, CAH, fatty acid oxidation disorder, galactosemia, and biotinidase deficiency cases were 1:773, 1:962, 1:4277, 1:4476, 1:11,322, 1:10,693, 1:10,693, 1:38,497, and 1:64,162, respectively. Conclusion. Using different technologies in NBSP increased the number of conditions detected, facilitating infant morbidity and mortality prevention. The frequency of disorders depends on the population's genetic background and diagnostic capacity.

The global role of G6PD in infection and immunity.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in humans. G6PD is an essential enzyme in the pentose phosphate pathway (PPP), generating NADPH needed for cellular biosynthesis and reactive oxygen species (ROS) homeostasis, the latter especially key in red blood cells (RBCs). Beyond the RBC, there is emerging evidence that G6PD exerts an immunologic role by virtue of its functions in leukocyte oxidative metabolism and anabolic synthesis necessary for immune effector function. We review these here, and consider the global immunometabolic role of G6PD activity and G6PD deficiency in modulating inflammation and immunopathology.

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among the fulminant hepatitis A virus infection patients.

Hepatitis A is a widespread viral infection with significant public health implications. Assessing glucose 6-phosphate dehydrogenase (G6PD) deficiency in hepatitis A patients is essential for various reasons, including prognosis, disease severity evaluation, encephalopathy risk identification, tailored management, and advancing scientific understanding. This study aimed to investigate the prevalence and clinical implications of G6PD impairment in individuals with fulminant hepatitis A. A cross-sectional descriptive analysis was conducted, involving hospitalized patients with fulminant hepatitis A. Demographic data, prevalence rates, and clinical findings were recorded in a database. The diagnosis of hepatitis A infection was confirmed using an anti-HAV IgM antibody test, and G6PD enzyme activity was measured with a fluorescent spot assay. Out of 81 patients with hepatitis A, 57 (70.4%) were males, and 24 (29.5%) were females, with an average age of 24.6 years. Dark yellow urine and anorexia were the most common clinical symptoms. Notably, 30 (37%) patients lacked G6PD. The group with G6PD deficiency showed significantly higher rates of encephalopathy and mortality (P<0.01), along with elevated bilirubin (P=0.00), abnormal coagulation parameters, and low hemoglobin levels (P=0.00). In light of these findings, the present study proposes the implementation of routine G6PD level assessments and the evaluation of other relevant markers in regions where hepatitis A is endemic. Furthermore, the study underscores the need for vigilant monitoring of hemolysis and encephalopathy in affected patients to optimize clinical management and reduce morbidity and mortality associated with this condition.

A Multi-Center Retrospective Database Evaluation of Pediatric Subjects Diagnosed With Methemoglobinemia.

Methemoglobinemia requires early identification and treatment, but limited knowledge exists regarding the current therapeutic approach taken by clinicians as well as the outcomes that occur in children. To determine the current prevalence of this rare disease in the pediatric population, evaluate the impact of methemoglobin and functional hemoglobin levels, and assess how this disease is approached by clinicians. We hypothesize that methemoglobinemia prevalence is low and more methylene blue use would be observed in subjects with functional hemoglobin levels less than 7 g/dL. This was a retrospective observational cohort study utilizing deidentified TriNetX® electronic health record (EHR) data. Using a multicenter EHR database, we evaluated subjective characteristics, diagnostic, laboratory results, medication, and procedural codes. Ninety-eight children (mean age 5.3 ± 5.3 years) from 53 healthcare organizations were included. Methemoglobinemia prevalence was 0.0015% with an overall 30-day mortality of 6.1%. Subjects with methemoglobin percentages greater than 20% had a higher frequency of methylene blue administration (70.6% versus 24.7%, P = .0005). Critical care service requirements and methylene blue administration were similar in the subjects with functional hemoglobin less than 7 g/dL and more than 7 g/dL groups. Overall, 13 (13.2%) subjects underwent glucose-6-phosphate dehydrogenase deficiency (G6PD) testing. In our study, we found methemoglobinemia prevalence in children is low, there is a low frequency of G6PD testing despite methylene blue hemolysis risk, and subjects appeared to be treated similarly despite a low functional hemoglobin. These findings highlight the continued critical nature of this disease and may highlight opportunities for education aimed at improving care in children diagnosed with methemoglobinemia, particularly related to G6PD testing.

Joint quantile disease mapping with application to malaria and G6PD deficiency.

Statistical analysis based on quantile methods is more comprehensive, flexible and less sensitive to outliers when compared to mean methods. Joint disease mapping is useful for inferring correlation between different diseases. Most studies investigate this link through multiple correlated mean regressions. We propose a joint quantile regression framework for multiple diseases where different quantile levels can be considered. We are motivated by the theorized link between the presence of malaria and the gene deficiency G6PD, where medical scientists have anecdotally discovered a possible link between high levels of G6PD and lower than expected levels of malaria initially pointing towards the occurrence of G6PD inhibiting the occurrence of malaria. Thus, the need for flexible joint quantile regression in a disease mapping framework arises. Our model can be used for linear and nonlinear effects of covariates by stochastic splines since we define it as a latent Gaussian model. We perform Bayesian inference using the R integrated nested Laplace approximation, suitable even for large datasets. Finally, we illustrate the model's applicability by considering data from 21 countries, although better data are needed to prove a significant relationship. The proposed methodology offers a framework for future studies of interrelated disease phenomena.

Naphthalene toxicity in a patient with G6PD deficiency

Naphthalene toxicity in a patient with G6PD deficiency

Implementation of Glucose-6-Phosphate Dehydrogenase (G6PD) testing for Plasmodium vivax case management, a mixed method study from Cambodia.

Plasmodium vivax remains a challenge for malaria elimination since it forms dormant liver stages (hypnozoites) that can reactivate after initial infection. 8-aminoquinolone drugs kill hypnozoites but can cause severe hemolysis in individuals with Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. The STANDARD G6PD test (Biosensor) is a novel point-of-care diagnostic capable of identifying G6PD deficiency prior to treatment. In 2021, Cambodia implemented the Biosensor to facilitate radical cure treatment for vivax malaria. To assess the Biosensor's implementation after its national rollout, a mixed-methods study was conducted in eight districts across three provinces in Cambodia. Interviews, focus group discussions, and observations explored stakeholders' experiences with G6PD testing and factors influencing its implementation. Quantitative data illustrative of test implementation were gathered from routine surveillance forms and key proportions derived. Qualitative data were analyzed thematically. The main challenge to implementing G6PD testing was that only 49.2% (437/888) of eligible patients reached health centers for G6PD testing following malaria diagnosis by community health workers. Factors influencing this included road conditions and long distances to the health center, compounded by the cost of seeking further care and patients' perceptions of vivax malaria and its treatment. 93.9% (790/841) of eligible vivax malaria patients who successfully completed referral (429/434) and directly presented to the health center (360/407) were G6PD tested. Key enabling factors included the test's acceptability among health workers and their understanding of the rationale for testing. Only 36.5% (443/1213) of eligible vivax episodes appropriately received primaquine. 70.5% (165/234) of female patients and all children under 20 kilograms never received primaquine. Our findings suggest that access to radical cure requires robust infrastructure and income security, which would likely improve referral rates to health centers enabling access. Bringing treatment closer to patients, through community health workers and nuanced community engagement, would improve access to curative treatment of vivax malaria.

Etiology analysis and G6PD deficiency for term infants with jaundice

Etiology analysis and G6PD deficiency for term infants with jaundice

Prevalence Of Glucose-6-Phosphate Dehydrogenase Deficiency in People Living in Katsina Metropolis

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most prevalent human enzyme defects observed in malaria endemic areas. The study included 212 participants, with 142 (67%) male and 70 (33%) female, aged between14 to 59 with a mean age of 24.20±9.35 years. The study was granted ethical approval by the Katsina State Ministry of Health. Each subject gave his/her written informed permission after counseling. G6PD deficiency, malaria parasite, reduced glutathione (GSH), glutathione peroxidase (GPx), packed cell volume (PCV) and hemoglobin (Hb) were assayed using standard procedures. Among the 212 participants tested in the study, 40 (19%) were found to be G6PD deficient and 172 (81%) participants were normal. Among 212 participants tested, 75 (35.4%) were infected with malaria parasite out of which 13 (17.3%) were G6PD deficient and 62 (82.7%) were normal. Among the 40 G6PD deficient subjects, 33 (82.5%) were male while 7 (17.5%) were females. GSH concentration was lowered significantly in G6PD-deficient subjects compared to the normal subjects. GPx, Hb and PCV showed no significant difference (p&gt;0.05) in the deficient subjects compared to the normal subjects. The results of this study suggest that G6PD deficiency is quite common with a prevalence of 19% in the population of Katsina metropolis. The data also shows that males are more likely to be affected by G6PD deficiency than females.

Parents' Awareness and Knowledge of G6PD Deficiency in the Eastern Province Saudi Arabia: A Cross-Sectional Study.

Background Glucose-6-phosphate dehydrogenase deficiency, known as G6PD deficiency, is a common hematological disease in the Eastern Province. The presence of Glucose-6-phosphate dehydrogenase enzyme in the erythrocyte is crucial, as it aids in the protection of RBCs by preventing cellular damage. It was found that more than 400 million people in the world lack this enzyme, making it the most common enzyme deficiency worldwide. Because of the high prevalence of the disease in the world and the paucity of research in Saudi Arabia about G6PD deficiency, the idea of examining and assessing the awareness and knowledge of parents who have children affected with G6PD emerged. Objective This study aimed to evaluate parental knowledge regarding G6PD deficiency, identify the common and spreadmisconceptions regarding the disease, provide general insightfor physicians about parental knowledge, and propose strategies to educate parents about G6PD deficiency. Methods Thiscross-sectional study was conducted from September 2022 to May 2023 on 459 individuals from the Eastern Province, Saudi Arabia. Using aquestionnaire, parents with variable education levels and incomes participated. The questionnaire was available in bothArabic and English. The study aimed to gather comprehensive data regarding parental awareness and knowledge of G6PD deficiency, it focused on evaluating levels of awareness, knowledge, and misinformation of the participants. Data were analyzed by using Statistical Package for the Social Sciences, ver22 (IBM Corp., Armonk, NY). The chi-square test was applied to check any association between demographics and level of knowledge (Good and Poor). Multiple logistic regression analysis was performed on significant demographic variables and an odds ratio with a 95% confidence interval was calculated. P < 0.05 was considered statistically significant. Results The study included a total of 459 participants, 309 (67.3%) were females and 150 (32.7%) were males. Regarding the demographics, the majority of the participants were <40 years old (61.9%), Saudi (99.3%), married (98.5%), having bachelor's/diploma level or above (Master/PhD) (76.9%), having inherited disorder (44.2%), and having a family history of chronic diseases (82.6%). Furthermore, regarding the knowledge of the disease, the majority of the participants who recognized the disease (82.1%)were familiar with the term fava bean anemia rather than it being called G6PD deficiency anemia. On the other hand, 73.2%of the participants were unable to recognize the disease and had never heard of G6PD deficiency anemia. In addition, the majority of participants had deficient information regarding medication triggers (61.4%), whether the gender of a person is linked to G6PD (77.5%), and whether both parents must be carriers to have a child with G6PD deficiency anemia (50.9%). Female respondents proved to be more knowledgeable regarding this topic as 57.9%of them showed good knowledge as compared to (44.7%) of the male subjects. Conclusion There are discrepancies in the level of awareness among research participants. Our result indicates the need for educational interventions regarding the nomenclature, medication triggers, inheritance mode and its relation to gender, and the symptoms of the disease and its severity. Therefore, it is advised to spread awareness in the eastern province through brochures, medical campaigns, and by healthcare professionals in different medical organizations.

Comparative Analysis of Qualitative G6PDH Assay with Gold Standard Quantitative Assay to Detect G6PD Deficiency in Pediatric Patients

Background: G6PD is the rate limiting enzyme in the pentose phosphate pathway that protects human cells from oxidative stress. G6PD deficiency is one of the most common enzymopathies in humans, affecting an estimated 400 million individuals worldwide. The main objective of our study is to Compare diagnostic accuracy of screening qualitative G6PDH assay with standard quantitative assay. Methodology and Results: This is 2 years study comprising 250 confirmed cases of G6PD deficiency by UDILIPSE G6PD quantitative assay. Of which 210 were boys and 40 were girls. 40 cases were reported as false Normal by G6PDH screening assay in boys and 28 in girls. Discussion: Our results were comparable to studies conducted by Mohammed islam, Daae LN et al., Bancone G et al., Kahn M et al., Conclusion: It can be safely concluded that male patients with suspected G6PD deficiency can be screened for G6PDH assay and if tests are indeterminate then can be proceed to quantitative assay. For female patients it is recommended to omit screening test and can directly perform quantitative G6PDH assay in order not to miss G6PD deficient carriers.

Assessment of Parents' Knowledge Regarding Pediatric Glucose-6-Phosphate Dehydrogenase Deficiency in Saudi Arabia.

Introduction Glucose-6-phosphate dehydrogenase deficiency (G6PD) is recognized as the most common enzyme disorder globally, impacting over 400 million individuals. The disease is highly prevalent in Saudi Arabia. This study aimed to assess parents' awareness of G6PD in Saudi Arabia and identify misconceptions for targeted educational interventions, aiming to enhance awareness and condition management. Methods A structured online questionnaire was used to gather information from July 18th, 2023, to August 1st, 2023. The survey targeted parents of Saudi children who resided in various regions across Saudi Arabia and collected a total of 531 responses. Data analysis involved descriptive statistics, chi-square tests, and probit regression. A significance level of p<0.05 was employed to interpret the results. Results A statistically significant associations were found among parents with Glucose-6-phosphate dehydrogenase deficiency-deficient children, including gender-related (odd ratio = 2.91, 99% CI: 1.986-4.301), awareness of the genetic link (odd ratio = 2.49, 99% CI: 1.701-3.639), specific medications (odd ratio =1.890, 99% CI: 1.262-2.853), loss of appetite (odd ratio= 0.629, 95% CI: 0.398-0.990), jaundice (odd ratio = 3.01, 99% CI: 1.877-4.983), increased fluid intake (odd ratio= 1.53, 95% CI: 1.091-2.139), receiving blood transfusions (odd ratio = 1.54, 95% CI: 1.101-2.157), seeking online information (odd ratio = 1.92, 99% CI: 1.250-2.940), and consulting healthcare professionals (odd ratio = 3.24, 99% CI: 2.065-5.107). Conclusion Regional disparities in glucose-6-phosphate dehydrogenase deficiency awareness among parents in Saudi Arabia are evident, with the central region demonstrating the highest level of awareness. Understanding glucose-6-phosphate dehydrogenase deficiency risk factors, medication triggers, and clinical symptoms plays a significant role in parental knowledge, emphasizing the need for region-specific education and awareness programs.

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder characterized by reduced G6PD enzyme levels in the blood. This condition is common in populations exposed to malaria; an acute febrile disease caused by Plasmodium parasites. G6PD-deficient individuals may suffer from acute hemolysis following the prescription of Primaquine, an antimalarial treatment. The population at risk for such a condition includes the Senoi group of Orang Asli, a remote indigenous community in Malaysia. This study aimed to elucidate the G6PD molecular heterogeneity in this subethnic group which is important for malaria elimination. A total of 662 blood samples (369 males and 293 females) from the Senoi subethnic group were screened for G6PD deficiency using a quantitative G6PD assay, OSMMR2000-D kit with Hb normalization. After excluding the family members, the overall prevalence of G6PD deficiency in the studied population was 15.2% (95% CI: 11-19%; 56 of 369), with males (30 of 172; 17.4%) outnumbering females (26 of 197; 13.2%). The adjusted male median (AMM), defined as 100% G6PD activity, was 11.8 IU/gHb. A total of 36 participants (9.6%; 26 male and 10 female) were deficient (<30% of AMM) and 20 participants (5.4%; 4 male and 16 female) were G6PD-intermediate (30-70% of AMM). A total of 87 samples were genotyped, of which 18 showed no mutation. Seven mutations were found among 69 genotyped samples; IVS11 T93C (47.1%; n = 41), rs1050757 (3'UTR +357A>G)(39.1%; n = 34), G6PD Viangchan (c.871G>A)(25.3%; n = 22), G6PD Union (c.1360C>T)(21.8%; n = 19), c.1311C>T(20.7%; n = 18), G6PD Kaiping (c.1388G>A)(8.0%; n = 7), and G6PD Coimbra (c.592C>T)(2.3%; n = 2). Our analysis revealed 27 hemizygote males, 18 heterozygote females, 7 homozygote females, and 2 compound heterozygote females. This study confirms the high prevalence of G6PD deficiency among the Senoi Malaysian Orang Asli, with a significant degree of molecular heterogeneity. More emphasis should be placed on screening for G6PD status and proper and safe use of Primaquine in the elimination of malaria among this indigenous population.

Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using a Near-Patient Diagnostic Platform.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in the African American population. We identified eighteen G6PD-deficient samples (9%) in a study of residual, de-identified whole blood specimens from 200 African American pediatric patients using a point-of-care instrument. This highlights the possibility of a rapid time to result for G6PD testing, which can be valuable in some clinical scenarios.

Incidence Trends of Inherited Anemias at the Global, Regional, and National Levels Over Three Decades.

Inherited anemia continues to pose a significant public health concern on a global scale, owing to its extensive geographical prevalence, substantial patient population, and profound ramifications. Here, we investigated detailed information on inherited anemias (including thalassemias, thalassemiastrait, sickle cell disease, sickle cell trait, G6PD deficiency, and G6PD trait) for the period 1990-2019 from the Global Burden of Disease study. Over the course of three decades, there has been a persistent rise in the incidence of inherited anemias worldwide, culminating in a total of 44,896,026 incident cases in 2019. However, the prevalence of inherited anemias has exhibited a consistent downward trend over successive years. Significantly, these inherited anemias primarily impact females, exhibiting a male-to-female ratio of 1:1.88. Among males, the most prevalent inherited anemia is G6PD deficiency, whereas G6PD trait prevails among females. The incidence rates of inherited anemias and their temporal trend exhibited significant variations across different regions, with Central Sub-Saharan Africa displaying the highest incidence rates and Central Latin America experiencing the most substantial decline. The findings of this study suggest a significant correlation between the Socio-Demographic index (SDI) and incidence rates of inherited anemias, particularly in regions with lower SDI levels such as Africa and South Asia. These results contribute valuable insights for the analysis of global trends in the burden of inherited anemias.

A positive correlation between mutated gene of sickle cell anemia and glucose-6-phosphate dehydrogenase among gond tribes of Chhattisgarh, India

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy affecting millions of individuals worldwide. It is believed that the prevalence of G6PD deficiency in different ethnic populations increases its association with other pathological conditions especially sickle cell anemia (SCA), as they both are well-known adaptations against malaria. Thus, the present study aims to determine the frequency of G6PD deficiency among SCA patients and the association between them in the tribal community (Gond) of Chhattisgarh, India. MethodA total of 810 samples from three different age groups i.e., 10–20, 21–30, and 31–40 years were collected from the tribal community (Gond) of Kabirdham district of Chhattisgarh. The frequency of SCA was determined by a slide test followed by cellulose acetate paper electrophoresis and G6PD deficiency by methemoglobin reduction test. Glutathione-S-Transferase (GST) gene polymorphism in sickle celled individuals and variant analysis in G6PD deficient individuals were analyzed by RT-PCR. ResultsThe frequency of SCA and G6PD deficiency was reported at 9.75% and 17.16% respectively and a high degree of positive correlation between SCA and G6PD deficiency was also found (HbSS-G6PD deficient: r = 0.84, p = .356; HbAS-G6PD deficient: r = 0.89, p = .345). Results of the GST gene revealed that GSTM1 and GSTT1 genes are present in almost all sickled individuals while GSTP1 and GSTP1a exist in the mutated form in a maximum percentage of individuals. G6PD variant analysis also showed that 70% and 60% of individuals have mutated Mahidol and Union variants respectively, while none of the individuals have mutated Chinese variants. ConclusionA high degree of correlation between SCA and G6PD was reported among Gond tribes of Chhattisgarh, India with a high degree of mutated GSTP1, GSTP1a, Mahidol, and Union variants. The study makes it possible to take specific preventive measures concerning the medication of anti-oxidizing drugs.