Prevalence Of Glucose-6-phosphate Dehydrogenase Deficiency Research Articles

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated. This research aimed to evaluate the outcomes of application of combined genetic and biochemical NBS for G6PD deficiency and to investigate the molecular epidemiological characteristics, variant spectrum, and genotype-phenotype correlation of G6PD deficiency in China. A population-based cohort of 29,601 newborns were prospectively recruited from eight NBS centers in China between February 21 and December 30, 2021. Biochemical and genetic NBS was conducted simultaneously. The overall prevalence of G6PD deficiency was 1.12% (1.86% for male, and 0.33% for female; 1.94% for South China and 0.08% for North China). Genetic NBS identified 10 male patients undetected by biochemical NBS. The overall positive predictive values (PPVs) of biochemical and genetic NBS were 79.95% and 47.57%, respectively. A total of 15 variants were identified, with the six most common variants being c.1388G > A, c.1376G > T, c.95A > G, c.871G > A, c.1024C > T and c.392G > T (94.2%). The activity of G6PD was correlated with the type and WHO classification of variants. This study highlighted that combined screening could enhance the efficiency of current NBS for diagnosing G6PD deficiency. The prevalence, variant spectrum and allele frequency of G6PD deficiency vary across different regions. Our data provide valuable references for clinical practice and optimization of future screening strategies for G6PD deficiency.

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

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. 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. 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. 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.

Kinetics of glucose-6-phosphate dehydrogenase (G6PD) activity during Plasmodium vivax infection: implications for early radical malaria treatment

BackgroundPlasmodium vivax relapses due to dormant liver hypnozoites can be prevented with primaquine. However, the dose must be adjusted in individuals with glucose-6-phosphate-dehydrogenase (G6PD) deficiency. In French Guiana, assessment of G6PD activity is typically delayed until day (D)14 to avoid the risk if misclassification. This study assessed the kinetics of G6PD activity throughout P. vivax infection to inform the timing of treatment.MethodsFor this retrospective monocentric study, data on G6PD activity between D1 and D28 after treatment initiation with chloroquine or artemisinin-based combination therapy were collected for patients followed at Cayenne Hospital, French Guiana, between January 2018 and December 2020. Patients were divided into three groups based on the number of available G6PD activity assessments: (i) at least two measurements during the P. vivax malaria infection; (ii) two measurements: one during the current infection and one previously; (iii) only one measurement during the malaria infection.ResultsIn total, 210 patients were included (80, 20 and 110 in groups 1, 2 and 3, respectively). Data from group 1 showed that G6PD activity remained stable in each patient over time (D1, D3, D7, D14, D21, D28). None of the patients with normal G6PD activity during the initial phase (D1–D3) of the malaria episode (n = 44) was categorized as G6PD-deficient at D14. Patients with G6PD activity < 80% at D1 or D3 showed normal activity at D14. Sex and reticulocyte count were statistically associated with G6PD activity variation. In the whole sample (n = 210), no patient had severe G6PD deficiency (< 10%) and only three between 10 and 30%, giving a G6PD deficiency prevalence of 1.4%. Among the 100 patients from group 1 and 2, 30 patients (26.5%) were lost to follow-up before primaquine initiation.ConclusionsIn patients treated for P. vivax infection, G6PD activity did not vary over time. Therefore, G6PD activity on D1 instead of D14 could be used for primaquine dose-adjustment. This could allow earlier radical treatment with primaquine, that could have a public health impact by decreasing early recurrences and patients lost to follow-up before primaquine initiation. This hypothesis needs to be confirmed in larger prospective studies.

Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.

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. 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. 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. 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.

Hematological Indicators of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Malaria-Infected Individuals

Introduction: Malaria, a life-threatening infectious disease caused by Plasmodium parasites, continues to be a major global health concern, particularly in regions with high transmission rates. This retrospective cohort study aimed to investigate the hematological indicators of G6PD deficiency in individuals infected with malaria. The study utilized medical records and laboratory test results to analyze the hematological parameters and markers in individuals with confirmed malaria and G6PD deficiency. Methods: Data were collected from the laboratory unit of Mosul Teaching Hospitals in Ninevah Province, Iraq, from March 2021 to November 2022. The study population consisted of individuals diagnosed with malaria and with available G6PD deficiency test results. G6PD deficiency was determined by measuring the G6PD enzyme activity in the patient’s blood. Hematological parameters, including complete blood counts, platelet counts, and red blood cell indices, were recorded using a laboratory information system. Results: The study population exhibited a relatively low prevalence of G6PD deficiency, with no significant differences observed in age or gender distribution between individuals with and without G6PD deficiency. The distribution of malaria types did not differ significantly between the two groups. However, patients with G6PD deficiency showed a significantly higher monocyte count, indicating a potential association between G6PD deficiency and altered monocyte response during malaria infection. The clinical significance of this finding requires further investigation. Conclusion: This study sheds light on the hematological indicators of G6PD deficiency in individuals infected with malaria. The findings suggest a potential relationship between G6PD deficiency and altered monocyte response during malaria infection.

Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province.

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.

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.

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.

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.

Prevalence of G6PD deficiency and submicroscopic malaria parasites carriage in malaria hotspot area in Northwest, Tanzania

BackgroundThe 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.MethodsA 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.ResultsA 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).ConclusionsThis 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.

Real World Analysis of G6PD Testing Prior to the Use of Rasburicase in Hematologic Malignancies; A Single Center Experience

Introduction: The use of Rasburicase is contraindicated in patients with (Glucose -6-Phosphate Dehydrogenase) G6PD deficiency. The FDA recommends screening for G6PD deficiency prior to the use of Rasburicase, especially in those of African or Mediterranean ancestry. This recommendation, however, is not implemented uniformly. Methods: This was an IRB approved study. A retrospective chart analysis of adult patients with hematological malignancies treated in both the inpatient and outpatient setting between 2019 and 2022 was conducted. Data was reviewed and collected by investigators and compiled in a confidential platform. Results: A total of 437 patients were reviewed. The median age was 67 years. 54.9% were male and 45.1% were female. 65.6% of the patients were White, 23.5% were Black. Other ethnicities included Hispanics 3.8%, Asians 3.7%, Native American or Alaskan Natives 0.4% and unknown ethnicity in 4.3%. 37.3% of the patients had a diagnosis of Diffuse Large B Cell Lymphoma/High Grade B Cell Lymphoma, 34.1% had AML, 29.1% had CLL, 6.2 % had B or T-ALL, 2% had Burkitt lymphoma, and 1.6% had anaplastic T cell lymphoma. Rasburicase was utilized in 85/437 (19.5%) patients for the treatment of hyperuricemia of malignancy 50/85 (59%) and in 35/85 (41%) patients for the treatment of tumor lysis syndrome. G6PD was tested in 197 patients (45%) of which 39.5% were White, 21.8% were Black, 3.5% were Hispanic, 1% were Asian and 2.5% of unknown ethnicity. G6PD status was unknown in 55% patients. 7 cases of G6PD deficiency were identified, and 2 cases were highly suspicious for it due to the development of hemolysis after Rasburicase administration. 8/9 of these patients were African-American. In those patients who received Rasburicase, 70/85 (82.3%) received the medication prior to the G6PD results being available; 6 patients developed hemolysis and 1 patient developed methemoglobinemia. Of these 7 patients, 4 had unknown G6PD status, 2 had G6PD levels which were elevated but sent after signs of hemolysis were present and 1 was G6PD deficient. Of these patients, 3 were Black, 3 were Hispanic and 1 was White. Conclusions: G6PD testing was requested in 45% of patients being evaluated for hematologic malignancies. Of these, only 17.7% had results available before the administration of Rasburicase. 2% of this sample were found to either be G6PD deficient or had clinical suspicion for the same. 89% of them were Black. 8.2% of patients receiving Rasburicase developed complications related to oxidant injury caused by G6PD of which 43% were Black and 43% were Hispanic, though they constituted only 27.3% of the population. This study goes on to highlight the ethnic prevalence of G6PD deficiency, especially in the Black population. Strategies to increase testing for G6PD for all new diagnoses of hematological malignancies known to have a risk of TLS and reducing the time to resulting of G6PD levels can mitigate known adverse events from Rasburicase. The incorporation of G6PD testing as part of chemotherapy order set labs or use of hard stops prior to signing the treatment plan can be potential options to increase testing and screening.

Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in Arab Countries: Insights from a Systematic Review.

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.

Prevalence of Glucose 6 Phosphate Dehydrogenase Deficiency in Population of Gujarat - Report of 9184 Cases

Background: All humans have the Glucose 6 phosphate dehydrogenase gene. Some people are born with a mutation of the Glucose 6 phosphate dehydrogenase gene. Most of these individuals are asymptomatic but may exhibit non-immune hemolytic anemia, even severe anemia in response to exposure to certain environmental triggers, most commonly, infection or exposure to certain foods like fava beans (favism), medications or chemicals. G6PD deficiency is an X-linked disorder that primarily affects males. Heterozygous females do not usually develop severe hemolytic anemia due to G6PD deficiency. This study destined to reveal the prevalence of G6PD deficiency in south Gujarat population. Methods: This is a retrospective case study designed to assess the prevalence of G6PD deficiency in gujarat population, for patient requesting G6PD test at multiple collection center of Desai metropolis laboratory pvt ltd. between January 2022 to May 2023. Glucose-6-phosphate dehydrogenase deficiency analysis was done by Methylene dye blue test (Arkray MBK) – Qualitative method. All G6PD deficient patient confirmed by G6PD-quantitative (Kinetic method). Results: Total 9180 patients (5790 male and 3394 female) were included in this study. They were subsequently categorized into various subgroups and analysed properly. The incidence of G6PD deficiency in the selected sample frame of cases was 3.69 %. In which 4.11% of G6PD deficient cases belong to the male while the rest 2.98 % belong to the female. Conclusion: Therefore, to conclude whenever clinical and hematological findings raise the suspicion of glucose 6 phosphate dehydrogenase deficiency, the disorder should be confirmed by quantitative/quantitative measurement of red blood cell enzyme activity in both male and female. There is also need for a large screening programme, especially in malaria endemic zones.

Evaluation of the prevalence of glucose-6-phosphate dehydrogenase deficiency in Al-Qassim region of Saudi Arabia

BackgroundGlucose-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.MethodsThis 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.ResultsThe 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.ConclusionThe prevalence of G6PD deficiency was low in Al-Qassim region of Saudi Arabia.

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania.

Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most frequent enzymopathy worldwide; it is a genetic disorder that affects red blood cells and causes hemolysis. Here, we conducted a study on G6PD-deficient subjects in Mauritania to evaluate the molecular characteristics associated with a deficiency in this enzyme and the frequency of nucleotide polymorphisms in the glucose-6-phosphate dehydrogenase gene. A total of 943 blood samples were collected from blood donors (803 males and 140 females; 364 white Moors; 439 black Moors; 112 Pulaar; 18 Wolof; 10 Soninke). All blood samples were analyzed using a rapid screening test. G6PD status was analyzed quantitatively by the Randox G6PD test. Samples deficient in G6PD were extracted from the whole blood samples and subjected to DNA genotyping. The most frequent G6PD variants were determined by two molecular techniques: restriction fragment length polymorphism (RFLP) and multiplex PCR using the GENESPARK G6PD African kit. A total of six single nucleotide polymorphisms (SNPs) (G202A, A376G, A542T, G680T, C563T, and T968C) were identified. The prevalence of G6PD deficiency in this population sample was 8.1%. The most common mutation was A376G/202A and was characterized by the G6PD A-phenotype, which is more common in the G6PD-deficient black Moors population. The wilaya in Nouakchott was the most affected among the 13 wilayas studied. This study shows, for the first time, the presence of the G680T mutation.

Performance Comparison Between Conventional Fluorescent Spot Test and Quantitative Assay in Detecting G6PD Deficiency in Neonates.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide. The fluorescent spot test (FST) is the conventional method for screening neonates for G6PD. However, it has limitations and quantitative assays such as the CareStart Biosensor 1 are being increasingly recommended. This study aimed to compare FST and CareStart Bioensor 1 in their ability to detect G6PD levels in neonates. This cross-sectional study involved 455 neonates between June and December 2020. Two milliliters of cord blood were analyzed with CareStart Biosensor 1 and dried cord blood spots with FST. Data was recorded and statistically analyzed. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated to determine the performance of FST at specific G6PD cut-off values; Cohen's kappa analysis assessed the agreement between the two methods. The sensitivity of FST at 30% cut-off G6PD activity level was 91.0%, (95% CI: 57.0-100) and specificity of 97.0% (95% CI: 95.0-98.0). At 60% cut-off, the FST sensitivity sharply declined to 29.0% (95% CI: 19.0-40.0) with a specificity of 100% (95% CI: 98.0-100). The overall prevalence of G6PD deficiency was 5.1% as measured by FST and 17.8% by Biosensor 1 (p < 0.001). In this study, FST missed a significant proportion of cases of intermediate G6PD levels. FST also misclassified several G6PD intermediate individuals as normal, rendering them susceptible to oxidative stress. Biosensor 1 reported a significantly higher prevalence of G6PD deficiency.

Prevalence of glucose-6-phosphate dehydrogenase deficiency among children attending federal medical center, Owerri, Imo State, Nigeria

Abstract Background: This study focuses on glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary disease with a sex-linked recessive pattern leading to abnormally low levels of G6PD. The condition is primarily associated with drug and infection-induced hemolytic anemia, neonatal jaundice, and related consequences. The absence of locally sourced evidence-based data has contributed significantly to the elevated mortality rate observed in children affected by G6PD deficiency. As a result, the main objective of this research is to determine the prevalence of G6PD deficiency among children attending the Federal Medical Centre Owerri, Imo State, Nigeria. Materials and Methods: Over 6 months, a study was conducted at the Federal Medical Centre in Owerri, the capital of Imo State, South Eastern Nigeria. The study involved 150 children of both sexes, aged between 1 and 10 years, whose G-6-PD status was previously unknown. With the consent of their parents, the children underwent screening for G6PD deficiency, and qualitative data were collected from the parents. G6PD deficiency was identified using standard procedures. Results: The study included 150 children between 1 and 10 years old. Of these, 68 (45.5%) were females, and 82 (54.7%) were males. The study findings indicated that 31 subjects (20.7%) were found to have G6PD deficiency. Notably, a higher percentage of males, 82 (54.7%), had G6PD deficiency compared with 68 (45.5%) females. Furthermore, the research revealed that a significant proportion of G6PD deficient children 16 (35.6%) were within the age range of 1–2 years. Conclusion: The results of this research emphasize the importance of critical stakeholders directing their efforts toward establishing an effective mechanism to improve early detection and management of G6PD deficient children.

The effect of phototherapy on neonatal calcium and bilirubin levels: a comparison between patients with low and normal G6PD levels

Introduction: Iran is among countries that report a higher prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency, ranging from 2.28% to 30.80%. This study aimed to estimate the general prevalence of G6PD deficiency in newborns with jaundice who were hospitalised in southeast Iran. Methods: This was a prospective study. A total of 100 newborns (boys and girls) with hyperbilirubinaemia, presented to Amir Al-Mo’menin Hospital in 2006 and 2007, were selected for the study. Age, gender, weight, time of jaundice, the maximum level of direct bilirubin, and the total level of bilirubin among the newborns were recorded, and the data were analysed by SPSS. Results: A total of 100 jaundice neonates, including 46 girls and 54 boys, were enrolled. Twenty-two percent of these patients, including 18 (82%) boys and 4 (18%) girls, showed low levels of G6PD. The overall mean bilirubin level was 15.45 ± 3.43 mg/dL among neonates with low G6PD levels, while it was 19.21 ± 3.34 mg/dL in patients with normal G6PD levels, which showed a significant difference (p &lt; 0.05). Conclusion: The prevalence of G6PD deficiency in neonates with jaundice in our study was 22%, which was higher compared to other regions. We propose G6PD deficiency screening for the prevention of its complications. We also suggest assessing calcium levels following phototherapy, given the higher prevalence of hypocalcaemia.

Investigating the Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among Patients with Favism Symptoms in Kerman City, Southern Iran

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is humans’ most common erythrocyte enzyme defect. About 400 million people are estimated to be affected by this disorder worldwide. Antimalarial drugs, especially primaquine, and other oxidative stress, can cause hemolytic complications in G6PD deficient individuals. This study aimed to evaluate the prevalence of G6PD deficiency in Kerman City in southern Iran.&#x0D; Materials and Methods: This descriptive cross-sectional study was conducted from 2016 to 2021. Blood samples were taken from all patients with symptoms of G6PD deficiency who were referred to a general hospital in Kerman City in southern Iran. The G6PD enzyme activity was measured qualitatively by fluorescent spot test.&#x0D; Results: A total of 6369 patients were included in this study. G6PD deficiency was seen in 424 (6.7%) subjects. Of 424 patients, 359 (84.7%) were severely G6PD deficient, and 65 (15.3%) patients exhibited partial deficiency. G6PD deficiency was seen in 324 (9.3%) males and 100 (3.4%) females (p &lt; 0.001).&#x0D; Conclusion: The results of our study confirmed the existence of G6PD deficiency in a significant percentage of patients in Kerman City. Therefore, many people in this city are exposed to hemolytic complications if they use antimalarial drugs and other oxidative substances. According to our results, testing G6PD deficiency and monitoring the potential primaquine toxicity in patients who receive primaquine are highly recommended.

Georacial Epidemiological Estimates of Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in the United States.

Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is the most common inherited enzyme deficiency disorder worldwide and a major risk factor for the development of severe hyperbilirubinemia. Racial diversity of phenotypes and genotypes in affected individuals is likely to exist in the United States because of changing population demographics. The aim of the present study was to predict an empirical estimate of annual prevalence of G6PDd in newborns adjusted for geography (state of birth), maternal racial identity, and sex of the infant. Birth statistics (2019) from National Center for Vital Statistics and CDC-WONDER data and race-specific prevalence of G6PDd in the United States were evaluated from published sources. We developed Simpson's diversity index (DI) for each State and correlated these to rates of G6PDd in neonates. Descriptive statistics including modeled prevalence and its association with DI were assessed using the Spearman's rho correlation test. We modeled state-specific prevalence for six states (California, Washington DC, Illinois, Massachusetts, New York, and Pennsylvania) using population-level allele frequencies and race, based on Hardy-Weinberg equilibrium. We estimated 78,010 (95% confidence interval: 76,768-79,252) newborns had G6PDd at birth in 2019 with cumulative median prevalence of 17.3 (interquartile range: 12.4-23.2) per 1,000 live births for United States. A strong association was noted for DI and prevalence of G6PDd (p < 0.0005). Five states (Washington DC, Mississippi, Louisiana, Georgia, and Maryland) have the highest projected G6PDd prevalence, with a range of 35 to 48 per 1,000 live births. The probability of G6PDd for female heterozygotes, based on male prevalence, ranged from 1.1 to 7.5% for each cohort in the select six states. States with diverse populations are likely to have higher rates of G6PDd. These prevalence estimates exceeded by several-fold when compared with disorders screened by existing state mandated newborn screening panels. These discrepancies are further confounded by known risk of severe neonatal hyperbilirubinemia that results with G6PDd and the life-long risk of hemolysis. Combined universal newborn predischarge screening for G6PDd and bilirubin could alert and guide a clinician's practices for parental education and closer medical surveillance during the vulnerable neonatal time period. · G6PDd is a common X-linked disorder that can present with varied phenotypes among newborns.. · Prevalence of G6PDd and genotype distribution varies with sex, race, and ethnicity.. · We present regional race- and sex-based estimates of G6PDd in the United States..