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BACKGROUND: To interrupt residual malaria transmission and achieve successful elimination of Plasmodium falciparum in low-transmission settings, the World Health Organization (WHO) recommends the administration of a single dose of 0.25 mg/kg (or 15 mg/kg for adults) primaquine (PQ) combined with artemisinin-based combination therapy (ACT), without glucose-6-phosphate dehydrogenase (G6PD) testing. However, due to the risk of haemolysis in patients with G6PD deficiency (G6PDd), PQ use is uncommon. Thus, this study aimed to assess the safety of a single low dose of PQ administered to patients with G6PD deficiency. METHODS: An observational cohort study was conducted with patients treated for uncomplicated P. falciparum malaria with either single-dose PQ (0.25 mg/kg) (SLD PQ) + ACT or ACT alone. Microscopy-confirmed uncomplicated P. falciparum malaria patients visiting public health facilities in Arjo Didessa, Southwest Ethiopia, were enrolled in the study from September 2019 to November 2022. Patients with uncomplicated P. falciparum malaria were followed up for 28 days through clinical and laboratory diagnosis, such as measurements of G6PD levels and haemoglobin (Hb) concentrations. G6PD levels were measured by a quantiative CareSTART™ POCT S1 biosensor machine. Patient interviews were also conducted, and the type and frequency of clinical complaints were recorded. Hb data were taken on days (D) 7, 14, 21, and 28 following treatment with SLD-PQ + ACT or ACT alone. RESULTS: A total of 249 patients with uncomplicated P. falciparum malaria were enrolled in this study. Of these, 83 (33.3%) patients received ACT alone, and 166 (66.7%) received ACT combined with SLD-PQ treatment. The median age of the patients was 20 (IQR 28-15) years. G6PD deficiency was found in 17 (6.8%) patients, 14 males and 3 females. There were 6 (7.2%) and 11 (6.6%) phenotypic G6PD-deficient patients in the ACT alone and ACT + SLD-PQ arms, respectively. The mean Hb levels in patients treated with ACT + SLD-PQ were reduced by an average of 0.45 g/dl (95% CI = 0.39 to 0.52) in the posttreatment phase (D7) compared to a reduction of 0.30 g/dl (95% CI = 0.14 to - 0.47) in patients treated with ACT alone (P = 0.157). A greater mean Hb reduction was observed on day 7 in the G6PDd ACT + SLD-PQ group (- 0.60 g/dL) than in the G6PDd ACT alone group (- 0.48 g/dL); however, there was no statistically significant difference (P = 0.465). Overall, D14 losses were 0.10 g/dl (95% CI = - 0.00 to 0.20) and 0.05 g/dl (95% CI = - 0.123 to 0.22) in patients with and without SLD-PQ, respectively (P = 0.412). CONCLUSIONS: This studys findings indicate that using SLD-PQ in combination with ACT is safe for uncomplicated P. falciparum malaria regardless of the patients G6PD status in Ethiopian settings. Caution should be taken in extrapolating this finding in other settings with diverse G6DP phenotypes.

• Glucose-6-phosphate dehydrogenase (G6PD) as an important antioxidant enzyme in RBC and has a protective effect against oxidative stress. • G6PD deficiency is the most inherited enzyme disorders in red blood cell (RBC) and its lack weakens red blood cells against oxidative stress. • Oxidative damage in red cell concentrates prepared from G6PD deficient donors was more considerable than healthy donors during storage and subsequently, the RBC storage lesion is also higher in G6PD deficient donors than in healthy donors. • Screening of G6PD enzyme deficiency in pandemic area before blood transfusion seems to be necessary and it will help to improve the quality of donated blood in the blood transfusion centers. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme disorder in red blood cell (RBC). Due to the importance of G6PD enzyme as an antioxidant in RBC, we tried to investigate the oxidative damage in red cell concentrates (RCCs) prepared from donors with G6PD enzyme deficiency in comparison with healthy donors. This cross-sectional study was conducted on 20 male donors. Ten of the donors had G6PD deficiency (as a case) and the others had normal enzyme activity (as a control). Biochemical and oxidative damage parameters were examined in RCCs prepared from two groups on days 0, 7, 14, 21, 28 and 35 of RCCs storage; data comparison was analyzed by SPSS statistical software. According to the result, lactate concentration increased significantly from the 7th day to the 35th day of RCC storage in G6PD-deficient donors compared to the control (P < 0.05). In addition, malondialdehyde (MDA) concentration in G6PD-deficient RCC showed a significant increase compared to the control in all days of storage (P < 0.05). Among the hematological parameters, mean corpuscular volume (MCV) and mean cell hemoglobin (MCH) increased significantly in all days of RCC storage in G6PD-deficient donors compared to the control (P < 0.05). Our study showed that oxidative changes in G6PD-deficient donors were significantly increased compared to the healthy donors, which probably leads to RCC storage lesion and an increase in blood transfusion complications. Due to the high prevalence of G6PD enzyme deficiency in pandemic areas, it seems that enzyme screening should be included in donor screening programs. [ABSTRACT FROM AUTHOR]

Plasmodium vivax is a major cause of malaria, which poses an increased health burden on approximately one third of the world's population due to climate change. Primaquine, the preferred treatment for P. vivax malaria, is contraindicated in individuals with glucose‐6‐phosphate dehydrogenase (G6PD) deficiency, a common genetic cause of hemolytic anemia, that affects ∼2.5% of the world's population and ∼8% of the population in areas of the world where P. vivax malaria is endemic. The Seattle Structural Genomics Center for Infectious Disease (SSGCID) conducted a structure–function analysis of P. vivaxN‐myristoyltransferase (PvNMT) as part of efforts to develop alternative malaria drugs. PvNMT catalyzes the attachment of myristate to the N‐terminal glycine of many proteins, and this critical post‐translational modification is required for the survival of P. vivax. The first step is the formation of a PvNMT–myristoyl–CoA binary complex that can bind to peptides. Understanding how inhibitors prevent protein binding will facilitate the development of PvNMT as a viable drug target. NMTs are secreted in all life stages of malarial parasites, making them attractive targets, unlike current antimalarials that are only effective during the plasmodial erythrocytic stages. The 2.3 Å resolution crystal structure of the ternary complex of PvNMT with myristoyl‐CoA and a novel inhibitor is reported. One asymmetric unit contains two monomers. The structure reveals notable differences between the PvNMT and human enzymes and similarities to other plasmodial NMTs that can be exploited to develop new antimalarials. [ABSTRACT FROM AUTHOR]

Summary G6PD deficiency results from mutations in the X‐linked G6PD gene. More than 200 variants are associated with enzyme deficiency: each one of them may either cause predisposition to haemolytic anaemia triggered by exogenous agents (class B variants), or may cause a chronic haemolytic disorder (class A variants). Genotype–phenotype correlations are subtle. We report a rare G6PD variant, discovered in a baby presenting with severe jaundice and haemolytic anaemia since birth: the mutation of this class A variant was found to be p.(Arg454Pro). Two variants affecting the same codon were already known: G6PD Union, p.(Arg454Cys), and G6PD Andalus, p.(Arg454His). Both these class B variants and our class A variant exhibit severe G6PD deficiency. By molecular dynamics simulations, we performed a comparative analysis of the three mutants and of the wild‐type G6PD. We found that the tetrameric structure of the enzyme is not perturbed in any of the variants; instead, loss of the positively charged Arg residue causes marked variant‐specific rearrangement of hydrogen bonds, and it influences interactions with the substrates G6P and NADP. These findings explain severe deficiency of enzyme activity and may account for p.(Arg454Pro) expressing a more severe clinical phenotype. [ABSTRACT FROM AUTHOR]

Naphthalene, an aromatic hydrocarbon prevalent in mothballs and deodorizers, poses significant health risks upon exposure, primarily through ingestion or dermal absorption. Herein, we report the case of a previously healthy 28-year-old male who presented with hemolysis, methemoglobinemia, and acute renal failure. The patient had a history of ingestion of mothballs, mistaking them for candy, prompting consideration of naphthalene intoxication as the clinical diagnosis, which was subsequently confirmed by laboratory findings. Given concurrent hepatic dysfunction and a diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, N-acetyl cysteine was administered instead of methylene blue. The patient's condition improved after he was managed with aggressive fluid resuscitation, noninvasive ventilation, blood transfusions, and hemodialysis. Naphthalene ingestion can result in hemolysis, methemoglobinemia, and acute kidney injury, with heightened susceptibility observed in patients with G6PD deficiency. [ABSTRACT FROM AUTHOR]

Abstract Background To interrupt residual malaria transmission and achieve successful elimination of Plasmodium falciparum in low-transmission settings, the World Health Organization (WHO) recommends the administration of a single dose of 0.25 mg/kg (or 15 mg/kg for adults) primaquine (PQ) combined with artemisinin-based combination therapy (ACT), without glucose-6-phosphate dehydrogenase (G6PD) testing. However, due to the risk of haemolysis in patients with G6PD deficiency (G6PDd), PQ use is uncommon. Thus, this study aimed to assess the safety of a single low dose of PQ administered to patients with G6PD deficiency. Methods An observational cohort study was conducted with patients treated for uncomplicated P. falciparum malaria with either single-dose PQ (0.25 mg/kg) (SLD PQ) + ACT or ACT alone. Microscopy-confirmed uncomplicated P. falciparum malaria patients visiting public health facilities in Arjo Didessa, Southwest Ethiopia, were enrolled in the study from September 2019 to November 2022. Patients with uncomplicated P. falciparum malaria were followed up for 28 days through clinical and laboratory diagnosis, such as measurements of G6PD levels and haemoglobin (Hb) concentrations. G6PD levels were measured by a quantiative CareSTART™ POCT S1 biosensor machine. Patient interviews were also conducted, and the type and frequency of clinical complaints were recorded. Hb data were taken on days (D) 7, 14, 21, and 28 following treatment with SLD-PQ + ACT or ACT alone. Results A total of 249 patients with uncomplicated P. falciparum malaria were enrolled in this study. Of these, 83 (33.3%) patients received ACT alone, and 166 (66.7%) received ACT combined with SLD-PQ treatment. The median age of the patients was 20 (IQR 28–15) years. G6PD deficiency was found in 17 (6.8%) patients, 14 males and 3 females. There were 6 (7.2%) and 11 (6.6%) phenotypic G6PD-deficient patients in the ACT alone and ACT + SLD-PQ arms, respectively. The mean Hb levels in patients treated with ACT + SLD-PQ were reduced by an average of 0.45 g/dl (95% CI = 0.39 to 0.52) in the posttreatment phase (D7) compared to a reduction of 0.30 g/dl (95% CI = 0.14 to − 0.47) in patients treated with ACT alone (P = 0.157). A greater mean Hb reduction was observed on day 7 in the G6PDd ACT + SLD-PQ group (− 0.60 g/dL) than in the G6PDd ACT alone group (− 0.48 g/dL); however, there was no statistically significant difference (P = 0.465). Overall, D14 losses were 0.10 g/dl (95% CI = − 0.00 to 0.20) and 0.05 g/dl (95% CI = − 0.123 to 0.22) in patients with and without SLD-PQ, respectively (P = 0.412). Conclusions This study’s findings indicate that using SLD-PQ in combination with ACT is safe for uncomplicated P. falciparum malaria regardless of the patient's G6PD status in Ethiopian settings. Caution should be taken in extrapolating this finding in other settings with diverse G6DP phenotypes.

Abstract The presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may increase the risk of type 2 diabetes mellitus (T2DM), with differing prevalence between males and females. Although G6PD deficiency is an X-linked genetic condition, its interaction with sex regarding T2DM risk among the Taiwanese population has not been fully explored. This study aimed to investigate the association between G6PD deficiency and T2DM risk in the Taiwanese population, focusing on the potential influence of sex. Data were obtained from the Taiwan Biobank (TWB) database, involving 85,334 participants aged 30 to 70 years. We used multiple logistic regression analysis to assess the interaction between G6PD rs72554664 and sex in relation to T2DM risk. The T2DM cohort comprised 55.35% females and 44.65% males (p

Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary disorder in southern China. However, the incidence rate of G6PD deficiency and the frequency of the most common G6PD gene variants vary widely. The purpose of this study was to investigate the prevalence, genotype, and phenotypic features of G6PD deficiency in neonates in Fujian province, southeastern China. Methods: This retrospective cohort study enrolled 2,789,002 newborns (1,521,431 males and 1,267,571 females) based on the newborn screening program for G6PD deficiency in Fujian Province between January 2010 and December 2021. Results: Of the 2,789,002 newborns enrolled, 26,437 cases were diagnosed (22,939 males and 3,498 females), and the estimated prevalence of G6PD deficiency in Fujian province was 0.95%. The prevalence was significantly higher among males (1.51%) than in females (0.28%) (p < 0.00001). Among the 3,198 patients with G6PD deficiency, 3,092 cases (2,145 males and 947 females) were detected to have G6PD gene variants. The top six prevalent genotypes identified represented 90.84% (2095/3,198) of the total and included c.1376G > T (44.93%), c.1388G > A (18.42%), c.1024C > T (9.32%), c.95A > G(8.69%), c.392G > T (5.25%), and c.871G > A (4.22%). The frequency of genotypes with c.1388G > A, c.1024C > T, and c.871G > A was higher in males in the Fujian province than in females, while the frequency of genotypes with c.1376G > T was lower. Furthermore, when comparing the enzyme activities of the top six prevalent genotypes, there were significant differences in the enzyme activities among the genotypes of male hemizygotes and female heterozygotes. According to the new classification of G6PD variants proposed by the World Health Organization (WHO), the variants with c.1376G > T, c.95A > G, and c.871G > A were recognized as Class A, while the c.392G > T, c.1388G > A, and c.1024C > T were recognized as Class B. Discussion: To the best of our knowledge, this study is the first to systematically describe the overview of epidemiological characteristics of newborn G6PD deficiency in Fujian province, China, including the screening rate, incidence rate, and variant spectrum. Additionally, we elucidated the relationship between the distribution of enzyme activity with specific mutations and their WHO classification patterns. Our results could provide strategies for screening, diagnosis, and genetic counseling of G6PD deficiency in this area. [ABSTRACT FROM AUTHOR]

Background: Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is an X‐linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia. Methods: PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed. Results: Five cases of G6PD‐related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD‐deficient patients. Exposures to substances known to cause G6PD deficiency‐related hemolysis occurred in 3/6 (50%) cases. Conclusion: Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X‐linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative. [ABSTRACT FROM AUTHOR]

Background: 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. Methods: 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. Results: 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). Conclusion: 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may increase the risk of type 2 diabetes mellitus (T2DM), with differing prevalence between males and females. Although G6PD deficiency is an X-linked genetic condition, its interaction with sex regarding T2DM risk among the Taiwanese population has not been fully explored. This study aimed to investigate the association between G6PD deficiency and T2DM risk in the Taiwanese population, focusing on the potential influence of sex. Data were obtained from the Taiwan Biobank (TWB) database, involving 85,334 participants aged 30 to 70 years. We used multiple logistic regression analysis to assess the interaction between G6PD rs72554664 and sex in relation to T2DM risk. The T2DM cohort comprised 55.35% females and 44.65% males (p < 0.001). The TC + TT genotype of rs72554664 was associated with an increased risk of T2DM, with an odds ratio (OR) of 1.95 (95% CI: 1.39–2.75), and males showed an OR of 1.31 (95% CI: 1.19–1.44). Notably, the G6PD rs72554664-T allelic variant in hemizygous males significantly elevated the T2DM risk (OR), 4.57; p < 0.001) compared to females with the CC genotype. Our findings suggest that the G6PD rs72554664 variant, in conjunction with sex, significantly affects T2DM risk, particularly increasing susceptibility in males. The association of the G6PD rs72554664-T allelic variant with a higher risk of T2DM highlights the importance of sex-specific mechanisms in the interplay between G6PD deficiency and T2DM. [ABSTRACT FROM AUTHOR]

Background: 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. Methods: 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. Results: 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

Abstract The primary objectives of the study were (a) to confirm that glucose 6-phosphate dehydrogenase (G6PD) deficiency affects HbA1c values in a sample of children and adolescents with type 1 diabetes (T1D) and (b) to quantify this effect so that a correction can be applied to the HbA1c values found in current clinical practice. The following data were collected: age, sex, G6PD, number of daily capillary blood glucose measurements, 90-day average blood glucose levels prior to the study, HbA1c, and glycated hemoglobin estimated (eA1c) obtained from blood glucose levels. Patients were divided into three groups based on G6PD values: deficient, intermediate, and nondeficient. In each group, a comparison between the average eA1C and HbA1c values was performed. Then, the difference between the eA1c and HbA1c values of each patient and the mean of the differences (MD) of all patients was calculated within the three groups. Finally, a comparison of the MD values between groups was performed. Seventy-four subjects with T1D were studied. Based on the G6PD value, 33 subjects were deficient, 8 were intermediate, and 33 subjects were nondeficient. In deficient patients, the eA1c values were significantly higher than the HbA1c values. In the other two groups, however, there were no differences. The MD values between the three groups were significantly different. In deficient patients, MD values were higher than those in intermediate and in nondeficient patients. No difference was found between intermediate and nondeficient subjects. Our study confirms that G6PD deficiency affects HbA1c values in children and adolescents with T1D, both in deficient subjects and, to a much lesser extent, in intermediate subjects. In deficient subjects, there is an average reduction in HbA1c attributable to enzyme deficiency of 1.3% (14 mmol/mol) and in intermediate subjects of 0.3% (3 mmol/mol).

Abstract Background Herbal products and traditional remedies are commonly used by individuals worldwide for the management of common ailments, even though most are not without risks. Acalypha indica is a popular medicinal plant consumed in some Asian countries. Case presentation This case report presents a 40-year-old previously unevaluated Sri Lankan female and her 8-year-old son who presented with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency related acute intravascular oxidative haemolysis and methaemoglobinaemia precipitated by Acalypha indica consumption, successfully managed with supportive care and blood transfusion. Conclusions This case highlights the potential hemolytic and methaemoglobinaemic effects of ingesting oxidant herbal products and the importance of considering such exposures in patients presenting with hemolysis and multiorgan involvement, particularly in communities where herbal product intake is popular. Healthcare providers should be aware of the risks associated with traditional remedies and maintain a high index of suspicion to ensure prompt recognition and appropriate management.

BackgroundGlucose-6-phosphate dehydrogenase deficiency is a rarely recognized predisposing factor for rhabdomyolysis. Rhabdomyolysis with coronavirus disease 2019 has been increasingly seen during the pandemic. We report the uncommon occurrence of coronavirus disease 2019 pneumonia, severe rhabdomyolysis, and acute renal failure in the setting of glucose-6-phosphate dehydrogenase deficiency.Case presentationA 19-year-old African American male presented with myalgias, diaphoresis, and dark urine. Testing for severe acute respiratory syndrome coronavirus 2 was positive. He had severe rhabdomyolysis with creatine kinase levels up to 346,695 U/L. He was oliguric and eventually required hemodialysis. Progressive hypoxemia, methemoglobinemia, and hemolytic anemia occurred following one dose of rasburicase for hyperuricemia. Glucose-6-phosphate dehydrogenase deficiency was diagnosed. Full recovery followed a single volume exchange transfusion and simple packed red blood cell transfusions.ConclusionsGlucose-6-phosphate dehydrogenase deficiency may predispose individuals to rhabdomyolysis due to severe acute respiratory syndrome coronavirus 2, presumably due to altered host responses to viral oxidative stress. Early screening for glucose-6-phosphate dehydrogenase deficiency can be useful for management of patients with rhabdomyolysis.

Background: Glucose 6 Phosphate Dehydrogenase deficiency is the most common erythrocyte enzymopathy being present in more than 400 million people worldwide which presents in the neonatal period as unconjugated hyperbilirubinemia and is inherited as an X-linked recessive disorder. G6PD enzyme deficiency leads to impaired production of reduced glutathione and predisposes the red blood cells to damage by oxidative metabolites causing haemolysis. Deficient neonates may manifest clinically as indirect hyperbilirubinemia or even kernicterus. Methods: This prospective observational study was conducted in Neonatal Intensive Care Unit, Gauhati Medical College and Hospital, over a period of one year from December 2022 to November 2023. A total number of 320 neonates with hyperbilirubinemia were included in this study. Data collection was done by history taking, meticulous clinical examination and essential laboratory tests. Results: Physiological jaundice was found to be the most common cause of neonatal hyperbilirubinemia (59.6 %) followed by ABO incompatibility (22.5%). G6PD deficiency was found in 5.6 % of neonates. The sex distribution was male 198 (61.9%) and female 122 (38.1%). The total serum bilirubin in G6PD deficient groups was found to be significantly higher (Mean 21.06 mg/dl) than due to other causes (Mean 18.2mg/dl). Conclusion: WHO recommends population screening in regions where the prevalence of G6PD deficiency is 3-5% or more, but this has yet to become routine practice in many parts of India. It is well known that hemoglobinopathies are common among people of Assam. Hence screening for G6PD deficiency in neonatal jaundice may be adopted as a non-mandatory screening test in Assam, especially in case of severe neonatal hyperbilirubinemia. Further, diagnosis of G6PD deficiency status also helps in prevention of future hemolysis due to exposure to offending agents. [ABSTRACT FROM AUTHOR]

The primary objectives of the study were (a) to confirm that glucose 6-phosphate dehydrogenase (G6PD) deficiency affects HbA1c values in a sample of children and adolescents with type 1 diabetes (T1D) and (b) to quantify this effect so that a correction can be applied to the HbA1c values found in current clinical practice. The following data were collected: age, sex, G6PD, number of daily capillary blood glucose measurements, 90-day average blood glucose levels prior to the study, HbA1c, and glycated hemoglobin estimated (eA1c) obtained from blood glucose levels. Patients were divided into three groups based on G6PD values: deficient, intermediate, and nondeficient. In each group, a comparison between the average eA1C and HbA1c values was performed. Then, the difference between the eA1c and HbA1c values of each patient and the mean of the differences (MD) of all patients was calculated within the three groups. Finally, a comparison of the MD values between groups was performed. Seventy-four subjects with T1D were studied. Based on the G6PD value, 33 subjects were deficient, 8 were intermediate, and 33 subjects were nondeficient. In deficient patients, the eA1c values were significantly higher than the HbA1c values. In the other two groups, however, there were no differences. The MD values between the three groups were significantly different. In deficient patients, MD values were higher than those in intermediate and in nondeficient patients. No difference was found between intermediate and nondeficient subjects. Our study confirms that G6PD deficiency affects HbA1c values in children and adolescents with T1D, both in deficient subjects and, to a much lesser extent, in intermediate subjects. In deficient subjects, there is an average reduction in HbA1c attributable to enzyme deficiency of 1.3% (14 mmol/mol) and in intermediate subjects of 0.3% (3 mmol/mol). [ABSTRACT FROM AUTHOR]

Background: Herbal products and traditional remedies are commonly used by individuals worldwide for the management of common ailments, even though most are not without risks. Acalypha indica is a popular medicinal plant consumed in some Asian countries. Case presentation: This case report presents a 40-year-old previously unevaluated Sri Lankan female and her 8-year-old son who presented with severe glucose-6-phosphate dehydrogenase (G6PD) deficiency related acute intravascular oxidative haemolysis and methaemoglobinaemia precipitated by Acalypha indica consumption, successfully managed with supportive care and blood transfusion. Conclusions: This case highlights the potential hemolytic and methaemoglobinaemic effects of ingesting oxidant herbal products and the importance of considering such exposures in patients presenting with hemolysis and multiorgan involvement, particularly in communities where herbal product intake is popular. Healthcare providers should be aware of the risks associated with traditional remedies and maintain a high index of suspicion to ensure prompt recognition and appropriate management. [ABSTRACT FROM AUTHOR]

Objective To analyze the epidemiological characteristics of imported vivax malaria, ovale malaria and glucose-6-phosphate dehydrogenase（G6PD) deficiency in Shanglin County, and to provide a scientific basis for malaria prevention and control. Methods The data of patients with imported malaria admitted to the People′s Hospital of Shanglin from June 18, 2017 to March 29, 2023 were collected and analyzed. Results A total of 578 patients with imported malaria were admitted, of which 40. 48%（234/578) were falciparum malaria patients, and 37. 54%（217/578) were vivax malaria, oval malaria and mixed infection patients who needed primaquine for radical treatment. Among them, G6PD deficiency patients accounted for 10. 90%（63/578), and G6PD deficiency patients requiring radical treatment accounted for 9. 68%（21/217). Conclusion There are more patients with imported vivax malaria and ovale malaria who need to be cured in Shanglin County, especially for patients with G6PD deficiency who need to be cured, management should be strengthened to prevent the occurrence of second-generation cases. [ABSTRACT FROM AUTHOR]

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, thalassemias trait, 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. [ABSTRACT FROM AUTHOR]

Abstract Background Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is an X‐linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia. Methods PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included “fetal edema,” “hydrops fetalis,” “glucose 6 phosphate dehydrogenase deficiency,” and “fetal anemia.” Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed. Results Five cases of G6PD‐related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD‐deficient patients. Exposures to substances known to cause G6PD deficiency‐related hemolysis occurred in 3/6 (50%) cases. Conclusion Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X‐linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative.

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.

Abstract Background It was hypothesized that glucose-6-phosphate dehydrogenase (G6PD) deficiency confers a protective effect against malaria infection, however, safety concerns have been raised regarding haemolytic toxicity caused by radical cure with 8-aminoquinolines in G6PD-deficient individuals. Malaria elimination and control are also complicated by the high prevalence of G6PD deficiency in malaria-endemic areas. Hence, accurate identification of G6PD deficiency is required to identify those who are eligible for malaria treatment using 8-aminoquinolines. Methods The prevalence of G6PD deficiency among 408 Thai participants diagnosed with malaria by microscopy (71), and malaria-negative controls (337), was assessed using a phenotypic test based on water-soluble tetrazolium salts. High-resolution melting (HRM) curve analysis was developed from a previous study to enable the detection of 15 common missense, synonymous and intronic G6PD mutations in Asian populations. The identified mutations were subjected to biochemical and structural characterisation to understand the molecular mechanisms underlying enzyme deficiency. Results Based on phenotypic testing, the prevalence of G6PD deficiency (T) and intronic (c.1365-13T>C and c.486-34delT) mutations was detected with intermediate to normal enzyme activity. The double missense mutations were less catalytically active than their corresponding single missense mutations, resulting in severe enzyme deficiency. While the mutations had a minor effect on binding affinity, structural instability was a key contributor to the enzyme deficiency observed in G6PD-deficient individuals. Conclusions With varying degrees of enzyme deficiency, G6PD genotyping can be used as a complement to phenotypic screening to identify those who are eligible for 8-aminoquinolines. The information gained from this study could be useful for management and treatment of malaria, as well as for the prevention of unanticipated reactions to certain medications and foods in the studied population.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this research was to investigate prevalence rates of G6PD deficiency and to evaluate and establish specific cut-off values in early prediction of G6PD deficiency by regions (HeFei, FuYang, AnQing) on different seasons, as well as to investigate the frequencies of G6PD gene mutations among three regions mentioned above. Methods: A total of 31,482 neonates (21,402, 7680, and 2340 for HeFei, FuYang, and AnQing cities, respectively) were recruited. Positive subjects were recalled to attend genetic tests for diagnosis. G6PD activity on the Genetic screening processor (GSP analyzer, 2021-0010) was measured following the manufactureržs protocol. The cut-off value was first set to 35 U/dL. The receiver operating characteristics (ROC) curve was employed to assess and compare the efficiency in predicting G6PD deficiency among HeFei, FuYang, and AnQing cities in different seasons. Results: 31482 participants were screened for G6PD deficiency, and 29 neonates were finally identified with G6PD deficiency, with a prevalence rate of 0.09%. The incidence rate of the G6PD deficiency was 0.10% (22/21,380) for HeFei, 0.04%(3/7,667) for FuYang, and 0.17% (4/2,396) for AnQing. The optimal cut-off values of the ROC curve in the prediction of G6PD deficiency was 26.55 U/dL for HeFei (spring: 21.80 U/dL, summer: 26.55 U/dL, winter: 23.16 U/dL), 6.35 U/dL for FuYang, 7.15 U/dL for AnQing. R463H (17/57, 29.82%) was the most frequent variation, followed by R459L (15/57, 26.31%), H32R (8/57, 14.04%), L342F (6/57, 10.53%), V291M (6/57, 10.53%). Conclusion: We have established the optimal cut-off values of G6PD activity in predicting G6PD deficiency among HeFei, FuYang and AnQing in different seasons. This will aid the early detection of G6PD deficiency among neonates of the regions mentioned above. We have also investigated the prevalence of the regions and discovered frequency mutations. Those results will help G6PD screening promotion and precision diagnosis for Anhui province.

Abstract 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, thalassemias trait, 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.

Abstract Background The use of primaquine for mass drug administration (MDA) is being considered as a key strategy for malaria elimination. In addition to being the only drug active against the dormant and relapsing forms of Plasmodium vivax, primaquine is the sole potent drug against mature/infectious Plasmodium falciparum gametocytes. It may prevent onward transmission and help contain the spread of artemisinin resistance. However, higher dose of primaquine is associated with the risk of acute haemolytic anaemia in individuals with a deficiency in glucose-6-phosphate dehydrogenase. In many P. falciparum endemic areas there is paucity of information about the distribution of individuals at risk of primaquine-induced haemolysis at higher dose 45 mg of primaquine. Methods A retrospective cross-sectional study was carried out using archived samples to establish the prevalence of G6PD deficiency in a malaria hotspot area in Misungwi district, located in Mwanza region, Tanzania. Blood samples collected from individuals recruited between August and November 2010 were genotyped for G6PD deficiency and submicroscopic parasites carriage using polymerase chain reaction. Results A total of 263 individuals aged between 0 and 87 were recruited. The overall prevalence of the X-linked G6PD A− mutation was 83.7% (220/263) wild type, 8% (21/263) heterozygous and 8.4% (22/263) homozygous or hemizygous. Although, assessment of the enzymatic activity to assign the phenotypes according to severity and clinical manifestation as per WHO was not carried out, the overall genotype and allele frequency for the G6PD deficiency was 16.4% and 13. 2%, respectively. There was no statistically significant difference in among the different G6PD genotypes (p > 0.05). Out of 248 samples analysed for submicroscopic parasites carriage, 58.1% (144/248) were P. falciparum positive by PCR. G6PD heterozygous deficiency were associated with carriage of submicroscopic P. falciparum (p = 0.029). Conclusions This study showed that 16.4% of the population in this part of North-western Tanzania carry the G6PD A− mutation, within the range of 15–32% seen in other parts of Africa. G6PD gene mutation is widespread and heterogeneous across the study area where primaquine would be valuable for malaria control and elimination. The maps and population estimates presented here reflect potential risk of higher dose of primaquine being associated with the risk of acute haemolytic anaemia (AHA) in individuals with a deficiency in glucose-6-phosphate dehydrogenase and call further research on mapping of G6PD deficiency in Tanzania. Therefore, screening and education programmes for G6PD deficiency is warranted in a programme of malaria elimination using a higher primaquine dose.

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) is the most common enzymopathy globally. Early studies suggested an association with severe psychotic illness; however, changes to laboratory testing and diagnostic classification renders the association unclear. This study aims to explore the interaction between G6PD deficiency and psychotic symptoms, in particular to identify specific patterns of presentation or impact on outcomes. Pubmed, Embase, and PsycInfo databases were searched from inception to May 2023. Descriptive statistics and narrative review of were used to synthesise data on demographics, mental and physical health diagnoses, investigations, treatment, and outcomes. No clear link was found in published data (eight case reports, case series of n = 29) with a high rate (63%) of haemolytic crisis at the time of psychiatric presentation suggested delirium as an alternative diagnosis. Four case control studies found no significant difference in the prevalence of G6PD deficiency. However, catatonic presentation was reported in 40% of the case series and a higher prevalence of G6PD deficiency in catatonic schizophrenia was noted in case control studies. Based on the information available there was no clear association between G6PD deficiency and psychotic illness or treatment resistance, although paucity of studies and risk of bias limit strong conclusions. [ABSTRACT FROM AUTHOR]

Background: It was hypothesized that glucose-6-phosphate dehydrogenase (G6PD) deficiency confers a protective effect against malaria infection, however, safety concerns have been raised regarding haemolytic toxicity caused by radical cure with 8-aminoquinolines in G6PD-deficient individuals. Malaria elimination and control are also complicated by the high prevalence of G6PD deficiency in malaria-endemic areas. Hence, accurate identification of G6PD deficiency is required to identify those who are eligible for malaria treatment using 8-aminoquinolines. Methods: The prevalence of G6PD deficiency among 408 Thai participants diagnosed with malaria by microscopy (71), and malaria-negative controls (337), was assessed using a phenotypic test based on water-soluble tetrazolium salts. High-resolution melting (HRM) curve analysis was developed from a previous study to enable the detection of 15 common missense, synonymous and intronic G6PD mutations in Asian populations. The identified mutations were subjected to biochemical and structural characterisation to understand the molecular mechanisms underlying enzyme deficiency. Results: Based on phenotypic testing, the prevalence of G6PD deficiency (< 30% activity) was 6.13% (25/408) and intermediate deficiency (30–70% activity) was found in 15.20% (62/408) of participants. Several G6PD genotypes with newly discovered double missense variants were identified by HRM assays, including G6PD Gaohe + Viangchan, G6PD Valladolid + Viangchan and G6PD Canton + Viangchan. A significantly high frequency of synonymous (c.1311C>T) and intronic (c.1365-13T>C and c.486-34delT) mutations was detected with intermediate to normal enzyme activity. The double missense mutations were less catalytically active than their corresponding single missense mutations, resulting in severe enzyme deficiency. While the mutations had a minor effect on binding affinity, structural instability was a key contributor to the enzyme deficiency observed in G6PD-deficient individuals. Conclusions: With varying degrees of enzyme deficiency, G6PD genotyping can be used as a complement to phenotypic screening to identify those who are eligible for 8-aminoquinolines. The information gained from this study could be useful for management and treatment of malaria, as well as for the prevention of unanticipated reactions to certain medications and foods in the studied population. [ABSTRACT FROM AUTHOR]

Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region. Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants. Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population. Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition. [ABSTRACT FROM AUTHOR]

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this research was to investigate prevalence rates of G6PD deficiency and to evaluate and establish specific cut-off values in early prediction of G6PD deficiency by regions (HeFei, FuYang, AnQing) on different seasons, as well as to investigate the frequencies of G6PD gene mutations among three regions mentioned above. Methods: A total of 31,482 neonates (21,402, 7680, and 2340 for HeFei, FuYang, and AnQing cities, respectively) were recruited. Positive subjects were recalled to attend genetic tests for diagnosis. G6PD activity on the Genetic screening processor (GSP analyzer, 2021-0010) was measured following the manufacturer's protocol. The cut-off value was first set to 35 U/dL. The receiver operating characteristics (ROC) curve was employed to assess and compare the efficiency in predicting G6PD deficiency among HeFei, FuYang, and AnQing cities in different seasons. Results: 31482 participants were screened for G6PD deficiency, and 29 neonates were finally identified with G6PD deficiency, with a prevalence rate of 0.09%. The incidence rate of the G6PD deficiency was 0.10% (22/21,380) for HeFei, 0.04%(3/7,667) for FuYang, and 0.17% (4/2,396) for AnQing. The optimal cut-off values of the ROC curve in the prediction of G6PD deficiency was 26.55 U/dL for HeFei (spring: 21.80 U/dL, summer: 26.55 U/dL, winter: 23.16 U/dL), 6.35 U/dL for FuYang, 7.15 U/dL for AnQing. R463H (17/57, 29.82%) was the most frequent variation, followed by R459L (15/57, 26.31%), H32R (8/57, 14.04%), L342F (6/57, 10.55%), V291M (6/57, 10.53%). Conclusion: We have established the optimal cut-off values of G6PD activity in predicting G6PD deficiency among HeFei, FuYang and AnQing in different seasons. This will aid the early detection of G6PD deficiency among neonates of the regions mentioned above. We have also investigated the prevalence of the regions and discovered frequency mutations. Those results will help G6PD screening promotion and precision diagnosis for Anhui province. [ABSTRACT FROM AUTHOR]

COVID-19 has become a significant public health problem since December 2019, and despite vaccination, people are still infected and have died because of COVID-19. COVID-19 mainly affects older adults and people with comorbidities like cancer, obesity, metabolic syndrome, diabetes, endocrine disorders, cardiovascular diseases, and immune disorders. On the other hand, some young adults infected by COVID-19 show severe symptoms similar to Kawasaki Disease (KD) called Kawasaki-like syndrome (KLS), incomplete Kawasaki disease, atypical Kawasaki disease, SARS-CoV-2-induced Kawasaki-like Hyper-inflammatory Syndrome (SCiKH Syndrome) and Kawa-COVID-19. Children with KD-like syndromes and cardiovascular complications, including aneurysms, left ventricular dysfunction, pericarditis, myocarditis, valvular regurgitation, or coronary arterial ectasia, tested positive for the COVID-19 virus, up to two-thirds of cases. On the other hand, people with glucose-6-phosphate dehydrogenase (G6PD) deficiency are more vulnerable to COVID-19 infection, and KD with G6PD deficiency has been reported previously. Therefore, children with G6PD deficiency or KD disease can be more vulnerable to COVID-19; thus, we discuss the possible role of COVID-19 in KD-like syndrome and G6PD deficiency associated with severe symptoms in children. Also, the possible correlation between COVID-19 infection and Kawasaki disease-like syndromes should be further investigated. [ABSTRACT FROM AUTHOR]

Background: 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. Objectives: The aim of the present study was to evaluate and compare levels of G6PD deficiency in diabetes mellitus patients. Materials and Methods: G6PD activity and fasting glucose levels were measured in blood samples of 49 diabetic patients and 21 healthy controls. Results: 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. Conclusion: 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. [ABSTRACT FROM AUTHOR]

Even though it predisposes carriers to hemolysis, glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked with malaria endemicity. This fact supports the malaria prevention theory. The objective of this paper to determine whether and how much there is a protective relationship between malaria and G6PD deficiency. Twelve databases were searched for studies describing any G6PD connection in malaria patients. 38 of the 50 included papers qualified for the review. Results indicated that there was no harmful association between G6PD deficiency and uncomplicated falciparum malaria in Even though it puts carriers at risk for hemolysis, glucose-6-phosphate dehydrogenase (G6PD) deficiency is widespread in areas of Pakistan where malaria is also prevalent. This data supports the malaria protection hypothesis. Pakistan's annual malaria burden is estimated to be 1.5 million cases. The government needs to execute a successful malaria control and eradication program, given the prevailing circumstances. Destroying Plasmodium falciparum gametocytes and eradicating Plasmodium vivax hypnozoite reservoirs are possible with primaquine. However, when using this medication, those who lack the enzyme glucose-6-phosphate (G6PD) experience hemolysis. The distribution of malaria and G6PD deficiency in Pakistan must be mapped to create an effective medication to suppress the disease. No significant reports of G6PD deficiency (G6PDd) in malaria patients have come from Pakistan. This review article seeks to establish the existence and magnitude of a protective connection between malaria and G6PD deficiency. [ABSTRACT FROM AUTHOR]

The 2019 novel coronavirus infection has done significant damage to the world. The effectiveness and safety of the vaccine, the most critical measure to control the epidemic, has attracted attention. In this case, we report the diagnosis and treatment of a rare patient with adverse effects of the COVID-19 vaccine who had G6PD deficiency by genetic tests. We discuss the possible impact of G6PD deficiency on COVID-19 infection and potential vaccine adverse effects. Patients with severe G6PD deficiency should be monitored for vaccine safety. This article may complement a rare mechanism of vaccine side effects and chemotherapyrelated side effects. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: The use of primaquine for mass drug administration (MDA) is being considered as a key strategy for malaria elimination. In addition to being the only drug active against the dormant and relapsing forms of Plasmodium vivax, primaquine is the sole potent drug against mature/infectious Plasmodium falciparum gametocytes. It may prevent onward transmission and help contain the spread of artemisinin resistance. However, higher dose of primaquine is associated with the risk of acute haemolytic anaemia in individuals with a deficiency in glucose-6-phosphate dehydrogenase. In many P. falciparum endemic areas there is paucity of information about the distribution of individuals at risk of primaquine-induced haemolysis at higher dose 45 mg of primaquine. Methods: A retrospective cross-sectional study was carried out using archived samples to establish the prevalence of G6PD deficiency in a malaria hotspot area in Misungwi district, located in Mwanza region, Tanzania. Blood samples collected from individuals recruited between August and November 2010 were genotyped for G6PD deficiency and submicroscopic parasites carriage using polymerase chain reaction. Results: A total of 263 individuals aged between 0 and 87 were recruited. The overall prevalence of the X-linked G6PD A− mutation was 83.7% (220/263) wild type, 8% (21/263) heterozygous and 8.4% (22/263) homozygous or hemizygous. Although, assessment of the enzymatic activity to assign the phenotypes according to severity and clinical manifestation as per WHO was not carried out, the overall genotype and allele frequency for the G6PD deficiency was 16.4% and 13. 2%, respectively. There was no statistically significant difference in among the different G6PD genotypes (p > 0.05). Out of 248 samples analysed for submicroscopic parasites carriage, 58.1% (144/248) were P. falciparum positive by PCR. G6PD heterozygous deficiency were associated with carriage of submicroscopic P. falciparum (p = 0.029). Conclusions: This study showed that 16.4% of the population in this part of North-western Tanzania carry the G6PD A− mutation, within the range of 15–32% seen in other parts of Africa. G6PD gene mutation is widespread and heterogeneous across the study area where primaquine would be valuable for malaria control and elimination. The maps and population estimates presented here reflect potential risk of higher dose of primaquine being associated with the risk of acute haemolytic anaemia (AHA) in individuals with a deficiency in glucose-6-phosphate dehydrogenase and call further research on mapping of G6PD deficiency in Tanzania. Therefore, screening and education programmes for G6PD deficiency is warranted in a programme of malaria elimination using a higher primaquine dose. [ABSTRACT FROM AUTHOR]

Hepatitis A is the most prevalent viral hepatitis in India and rarely can lead to life-threatening complications such as acute liver failure (ALF). Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in the world, and in the setting of acute viral hepatitis, it can cause massive intravascular hemolysis, resulting in acute kidney injury. Here, we report a case of a 12-year-old male child who had hepatitis A–associated ALF, which was complicated by massive hemolysis due to underlying G6PD deficiency, manifesting as acute renal failure requiring renal replacement therapy with other supportive management. He had a prolonged, protracted stormy clinical course, which was further complicated by dialysis disequilibrium syndrome, posterior reversible encephalopathy syndrome, and nosocomial sepsis, which improved over 4 weeks. Our case highlights the importance of having high index of clinical suspicion for G6PD deficiency in a child with acute viral hepatitis with complications. [ABSTRACT FROM AUTHOR]

Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder that is more common in males, is the most prevalent blood enzyme deficiency, affecting 5% of the population worldwide. Its prevalence in Saudi Arabia varies greatly from one region to another (4.7% to 12%), and no related data are available for the country’s Al-Qassim region. Methods This was a retrospective medical record-based study. Eligible patients were those who visited Dr. Sulaiman Al-Habib Hospital in Al-Qassim, Saudi Arabia, between June 2021 and November 2022, and underwent the test for G6PD enzyme deficiency. The study sample consisted of (n = 313) randomly selected Saudi patients. G6PD enzyme activity was evaluated using spectrophotometry. Results The prevalence of G6PD deficiency was 2.9%. The proportion of male patients (100%) was significantly higher than that of female patients. 88.9% of patients with G6PD deficiency experienced episodes of acute hemolysis and reported a history of favism, whereas 77.8% of the patients had a family history of favism. Conclusion The prevalence of G6PD deficiency was low in Al-Qassim region of Saudi Arabia.

Abstract Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity are susceptible to oxidative stress in red blood cells, thereby increasing the risk of pathophysiological conditions and toxicity to anti-malarial treatments. Globally, the prevalence of G6PDd varies among populations. Accordingly, this study aims to characterize G6PDd distribution within the Ecuadorian population and to describe the spatial distribution of reported malaria cases. Methods Molecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identify significant malaria clusters with high incidence rates across Ecuador, using data collected from 2010 to 2021. Results The A- c.202G > A and A- c.968T > C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency increased to 19.2% among Afro-Ecuadorian people. Spatial analysis revealed 12 malaria clusters, primarily located in the north of the country and its Amazon region, with relative risks of infection of 2.02 to 87.88. Conclusions The findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence of G6PDd among Afro-Ecuadorian groups in the northern endemic areas necessitates the development of comprehensive malaria eradication strategies tailored to this geographical region.

Background. Acute bilirubin encephalopathy is an acute neurological manifestation due to indirect bilirubin deposits in the basal ganglia and brainstem nuclei. In several developed countries, the incidence reaches 0.6-2.5 cases/100,000 births, while a recent study in 8 hospitals in Indonesia showed an incidence rate of 2%. In this paper, we describe an acute bilirubin encephalopathy in a neonate with G6PD deficiency. Case Presentation. A 5-day-old male neonate was admitted to the ER with recurrent generalized tonic seizures which started 6 hours prior to admission. Post seizure, the neonate cried then fell asleep. He had seemed less active and did not want to breastfeed for the last 12 hours. The neonate was born at full term (3160 grams) by a spontaneous vaginal delivery in the hospital, APGAR score 7/9, mother blood type AB+. He was exclusively breastfed with adequate intake. Physically examined, the neonate was lethargic with flat anterior fontanelle, Kramer V jaundice, fever, hypertonia, decreased sucking reflex, physiologic reflexes +2/+2, Babinski +/+, without cranial nerve paresis. Laboratory results of total bilirubin 44.79 mg/dL (indirect 43.04 mg/dL; direct 1.75 mg/dL), Hb 14.2 g/dL, WBC 15,000/μL, reticulocytes 124,500/μL, negative Coombs’s test, blood type A+, peripheral blood morphology within normal limits. The neonate was planned for exchange transfusion, intensive (triple) phototherapy was performed while waiting for the exchange transfusion. Bilirubin levels fell significantly within 12 hours after phototherapy initiation. Phototherapy was continued, the neonate was discharged on the seventh day of hospitalization in good condition. During treatment, etiology tracking was performed towards G6PD (G6PD level: 6.6 U/dL). Conclusion. Acute bilirubin encephalopathy is a rare morbidity found in newborns. ABE that occurs in the first week of life, prompt further investigations other than physiologic jaundice. Most frequent etiologies are ABO incompatibility, G6PD deficiency, sepsis and hereditary spherocytosis. In this case, we found G6PD as the cause of acute bilirubin encephalopathy in the first week of life.

Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency represents a barrier to the full deployment of anti-malarial drugs for vivax malaria elimination and of first-line antibiotics. Lack of established reference ranges for G6PD activity in breast-fed infants puts them at risk of drug-induced haemolysis and restricts access to safe treatment of their mothers. Methods The present work was undertaken to establish age-specific G6PD normal values using the gold standard spectrophotometric assay to support the future clinical use of tafenoquine in lactating women and safer antibiotic treatment in infants. Results Spectrophotometric results collected at the Thai-Myanmar border from 78 healthy infants between the ages of 2 and 6 months showed a trend of decreased enzymatic activity with increasing age (which did not reach statistical significance when comparing 2–3 months old against 4–6 months old infants) and provided a reference normal value of 100% activity for infants 2–6 months old of 10.18IU/gHb. Conclusions Normal reference G6PD activity in 2–6-month-old infants was approximately 140% of that observed in G6PD normal adults from the same population. Age specific G6PD activity thresholds should be used in paediatric populations to avoid drug-induced haemolysis.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common metabolic disorder affecting more than 400 million individuals worldwide. Being an X-linked disorder, the disease is more common among males than females. Various Arab countries estimated the prevalence of G6PD deficiency; however, findings from different countries have not been synthesized collectively. Hence, a systematic review was undertaken to synthesize the findings on the epidemiology of G6PD deficiency in all Arab countries. We performed an electronic systematic literature search based on the eligibility criteria using databases, including MEDLINE, Embase, and CINHAL. The studies included in the review were primary and original research studies assessing the prevalence or incidence, risk factors, or determinants of G6PD deficiency, and published in the English language in a peer-reviewed scientific journal between 2000 and 2022. The systematic review was carried out with the help of an updated PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) checklist. After the screening, 23 full texts were finalized for data extraction. The prevalence of G6PD deficiency ranged from 2 to 31% with a greater burden among high-risk populations like neonates with sickle cell anemia. The determinants included males, family history, consanguineous marriages, and geographic regions, which were all risk factors, except for body weight, which was a protective factor. The prevalence of G6PD deficiency varies across Arab countries, with a higher prevalence in males than females. Different regions of Arab countries need to revisit their screening and diagnostic guidelines to detect G6PD deficiency promptly and prevent unnecessary morbidity and mortality among their communities. [ABSTRACT FROM AUTHOR]

In this cohort study conducted in a national healthcare organization in Israel, we found that individuals with glucose-6-phosphate dehydrogenase deficiency had an increased risk of coronavirus disease 2019 (COVID-19) infection and severity, with higher rates of hospitalization and diagnosed long COVID. [ABSTRACT FROM AUTHOR]

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder that is more common in males, is the most prevalent blood enzyme deficiency, affecting 5% of the population worldwide. Its prevalence in Saudi Arabia varies greatly from one region to another (4.7% to 12%), and no related data are available for the country's Al-Qassim region. Methods: This was a retrospective medical record-based study. Eligible patients were those who visited Dr. Sulaiman Al-Habib Hospital in Al-Qassim, Saudi Arabia, between June 2021 and November 2022, and underwent the test for G6PD enzyme deficiency. The study sample consisted of (n = 313) randomly selected Saudi patients. G6PD enzyme activity was evaluated using spectrophotometry. Results: The prevalence of G6PD deficiency was 2.9%. The proportion of male patients (100%) was significantly higher than that of female patients. 88.9% of patients with G6PD deficiency experienced episodes of acute hemolysis and reported a history of favism, whereas 77.8% of the patients had a family history of favism. Conclusion: The prevalence of G6PD deficiency was low in Al-Qassim region of Saudi Arabia. [ABSTRACT FROM AUTHOR]

Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity are susceptible to oxidative stress in red blood cells, thereby increasing the risk of pathophysiological conditions and toxicity to anti-malarial treatments. Globally, the prevalence of G6PDd varies among populations. Accordingly, this study aims to characterize G6PDd distribution within the Ecuadorian population and to describe the spatial distribution of reported malaria cases. Methods: Molecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identify significant malaria clusters with high incidence rates across Ecuador, using data collected from 2010 to 2021. Results: The A- c.202G > A and A- c.968T > C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency increased to 19.2% among Afro-Ecuadorian people. Spatial analysis revealed 12 malaria clusters, primarily located in the north of the country and its Amazon region, with relative risks of infection of 2.02 to 87.88. Conclusions: The findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence of G6PDd among Afro-Ecuadorian groups in the northern endemic areas necessitates the development of comprehensive malaria eradication strategies tailored to this geographical region. [ABSTRACT FROM AUTHOR]

Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an Xlinked enzymatic disorder that is particularly prevalent in Africa, Asia, and the Middle East. This study aimed to assess the long-term health risks associated with G6PD deficiency. Methods: A retrospective cohort study was conducted using data from a national healthcare provider in Israel (Leumit Health Services). A total of 7,473 G6PDdeficient individuals were matched with 29,892 control subjects in a 1:4 ratio, based on age, gender, socioeconomic status, and ethnic groups. The exposure of interest was recorded G6PD diagnosis or positive G6PD diagnostic test. The main outcomes and measures included rates of infectious diseases, allergic conditions, and autoimmune disorders between 2002 and 2022. Results: Significantly increased rates were observed for autoimmune disorders, infectious diseases, and allergic conditions in G6PD-deficient individuals compared to the control group. Specifically, notable increases were observed for rheumatoid arthritis (odds ratio [OR] 2.41, p<0.001), systemic lupus erythematosus (OR 4.56, p<0.001), scleroderma (OR 6.87, p<0.001), pernicious anemia (OR 18.70, p<0.001), fibromyalgia (OR 1.98, p<0.001), Graves' disease (OR 1.46, p=0.001), and Hashimoto's thyroiditis (OR 1.26, p=0.001). These findings were supported by elevated rates of positive autoimmune serology and higher utilization of medications commonly used to treat autoimmune conditions in the G6PD-deficient group. Discussion: In conclusion, individuals with G6PD deficiency are at a higher risk of developing autoimmune disorders, infectious diseases, and allergic conditions. This large-scale observational study provides valuable insights into the comprehensive association between G6PD deficiency and infectious and immune-related diseases. The findings emphasize the importance of considering G6PD deficiency as a potential risk factor in clinical practice and further research is warranted to better understand the underlying mechanisms of these associations. [ABSTRACT FROM AUTHOR]