The co-existence of glucose-6-phosphate dehydrogenase deficiency among individuals with hemoglobinopathies and their effects on red cellindices

Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia

Vitamin E works within the cell membrane as a biological antioxidant and may prevent premature destruction of RBC in Glucose 6-phosphate dehydrogenase (G6PD) deficient hemolytic anemia. Changes in some of the hematological variables like hemoglobin (Hb) concentration, total count (TC) of RBC, packed cell volume (PCV) and reticulocyte counts may occur due to hemolysis of RBC in G6PD deficiency In the present study the role of vitamin E supplementation on these changes were observed in reducing chronic hemolysis in anemic patients with glucose 6-phosphate dehydrogenase (G6PD) deficiency For this, a total number of 102 subjects with age ranged from 5 to 40 years of both sexes were included in the study Among them 68 were G6PD enzyme deficient patients, of whom 34 were in supplemented group (experimental group) and 34 were nonsupplemented group (control group). The supplemented group received vitamin E supplementation for 60 consecutive days at a dose of 800 IU/day for adult and 400 IU/day for children 5. 12 years (in a divided dose i,e. 4 times daily). Age and sex matched 34 apparently healthy subjects with normal blood G6PD level were taken to observe the baseline data (healthy control) and also for comparison. All the G6PD deficient patients were selected from Out Patient Department (OPD) of hematology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh during the period of July 2005 to June 2006 and all the healthy subjects were selected from personal contact. Blood G6PD level, Hb%, TC of RBC, PCV, reticulocyte count and serum bilirubin level of all subjects were measured by standard laboratory techniques. All the parameters were measured on day 1(one) of their 1st visit forall the groups and also were on day 60 in deficient group. Data were compared among the different groups, also in supplemented group just before and after supplementation. Analysis of data was done by appropriate statistical method. Mean blood Hb%, TC of RBC and PCV were significantly lower but reticulocyte count and serum bilirubin levels were significantly higher in patients suffering from hemolytic anemia due to G6PD deficiency in comparison to those of the healthy control. After supplementation with vitamin E (i.e. on day-60) Hb concentration, total count of RBC, PCV were significantly increased whereas, reticulocyte count and serum bilirubin levels were significantly decreased towards those of healthy control in supplemented group of patients in comparison to those of their pre-supplemented (day-1) and non-supplemented groups both on day-1 and day-60. Therefore, from this study it may be concluded that, deterioration of some of the hematological parameters occur in G6PD deficient hemolytic anemic patients, improvement of which occur following vitamin E supplementation, which clearly indicates the role of this antioxidant vitamin in reducing the rate of hemolysis in this group of patients. So, vitamin E supplementation can be considered along with other drugs to treat this group of patients. DOI: 10.3329/bjpp.v22i1.3563 Bangladesh J Physiol Pharmacol 2006; 22(1/2) : 12-17

This case report presents the successful management of a patient with Glucose -6 -Phosphate Dehydrogenase (G6PD) deficiency who underwent a robotic radical hysterectomy for the treatment of cervical cancer. In order to treat cervical cancer, the patient underwent a robotic radical hysterectomy. A genetic enzyme disorder known as G6PD deficiency presents surgical complications in the form of oxidative stress and hemolysis. Emphasising the significance of a multidisciplinary approach in the management of these patients and the reduction of hemolysis risk during surgical procedures is the objective of this report. In this instance, we deliberate on preoperative evaluations, perioperative interventions, and postoperative results, underscoring the criticality of a meticulously customised anaesthetic and surgical strategy to safeguard the patient and achieve a favourable surgical outcome. This case highlights the importance of healthcare providers developing strategies to reduce the risk of hemolysis and other complications during surgical interventions in G6PD-deficient patients, as well as being aware of the potential difficulties that may arise.The perioperative management, comprising preoperative evaluation, intraoperative safety measures, and postoperative attention, was deliberated upon as factors that contributed to the patient's smooth recuperation.

Background: Glucose -6- phosphate dehydrogenase (G6PD) deficiency is one of the most common genetic enzymes abnormalities leading to hemolytic anemia affecting more than 400 million children worldwide. Aim: this study aimed to assess nurses' knowledge and performance related to care of children with glucose-6- phosphate dyhydrogenase deficiency at Assiut Children University Hospital. Design: Descriptive research design was used in this study. Subjects and Method: The subjects who participated in this study included all nurses (45) working in the General Hematology unit (18),Private Hematology unit (8) and Emergency unit (19) at Assiut University Children's Hospital.Tools: a structured interview sheet and observational checklist were used to assess nurses' knowledge and performance. Results: It was found that more than half of nurses had unsatisfactory total score of knowledge and performance related to care of the children with G6PD deficiency. There were statistical significant relation between total score of nurses' knowledge, performance and their personal characteristics except the residence and place of work. Conclusion: Nurses knowledge regarding G6PD deficiency were not enough with some unsafe practices. Recommendation: Continuing nursing education and in-services training programs in general, special hematology and emergency units concerning glucose-6- phosphate deficiency have to be emphasized periodically

ABO and Rhesus blood groups are the most important blood groups that are useful for transfusion purposes. The ABO and Rhesus blood groups vary in different populations. Among the several disorders of blood, haemoglobinopathies, Glucose - 6- phosphate dehydrogenase (G-6PD) deficiency and blood group serology are the most important genetic and public health issue in many parts of the world. The present work was undertaken to understand the relationship between blood groups, G-6PD deficiency and sickle cell anaemia. The distribution of ABO blood groups, Rh, G-6PD deficiency and Sickle cell anaemia was studied in rural women populations residing in different villages of Terai belt of Bihar In no case two persons belonging to the same family were subjected to test the above mentioned Mendelian traits. Standard methodology was used to collect data on various parameters. In the present investigation the frequency of blood group was B > O > A > AB. Out of 326 subjects, 141 (43.25%) were of B type, 93 (28.52%) O type, 65 (19.94%) A type and 27 (8.29) were of AB type. The frequency of Rh - was 10.12%. No case of G-6PD deficiency and Sickle cell anaemia was found. The study has a significant implication regarding the management of blood bank and transfusion services in this area. Knowledge of blood group distribution is also important for clinical studies, for reliable geographical information and for forensic studies in the population. The present study revealed a decrease tendency of G-6PD deficiency and sickle cell anaemia in the study area

HIV and sickle cell disease (SCD) are significant causes of morbidity and mortality in sub-Saharan Africa. Given their separate roles in immune dysregulation, our objective was to characterise the impact that SCD has on the presentation and progression of paediatric HIV. The study was a retrospective cohort study (study period 2004-2018). Cases of HIV+and SCD-afflicted patients (HIV+/SCD+) were obtained via electronic chart review from a paediatric HIV clinic in Kampala, Uganda and matched 1:3 with HIV+controls without SCD (HIV+/SCD-). Thirty-five HIV+/SCD+subjects and 95 HIV+/SCD- controls were analysed (39% female (51/130), age 3.6years (SD3.9)). At baseline, WHO clinical stage (64% total cohort Stage III/IV) and nutritional status (9.4% severe acute malnutrition) were similar for both groups, whereas HIV+/SCD+had higher though non-significant baseline CD4 count (1036 (SD713) vs 849 (SD638) cells/microlitre, P=0.20, two-tailed t-test). There were 19 deaths, 6 (17%) HIV+/SCD+and 13 (14%) HIV+/SCD-, with unadjusted/adjusted models showing no significant difference. Nutritional progression and clinical stage progression showed no significant differences between groups. Kaplan-Meier analysis showed a slower rate of treatment failures in the HIV+/SCD+cohort (P=0.11, log-rank survival test). Trajectory analysis showed that in the time period analysed, the HIV+/SCD+cohort showed a more rapid rise and higher total CD4 count (P=0.012, regression analysis). The study suggests that SCD does not adversely affect the progression of HIV in patients on ART. Further, HIV+/SCD+achieved higher CD4 counts and fewer HIV treatment failures, suggesting physiological effects due to SCD might mitigate HIV progression.

Aluminum phosphide (AlP) poisoning and glucose?6?phosphate dehydrogenase (G6PD) deficiency are two common clinical problems in Iran. However, hemolysis associated with AlP poisoning is extremely rare. We report a 24-year-old G6PD deficient patient with AlP poisoning presenting with intravascular hemolysis.

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.

ObjectivesThe study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate.ResultsThe 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3%) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

Background: Both glucose-6-phosphate dehydrogenase (G6PD) deficiency and sickle cell disease (SCD) are prevalent in malaria-endemic regions. Controversy however persists as to whether G6PD deficiency is commoner in SCD subjects compared with the general population. Co-existence of the enzyme-deficient state with a chronic haemolytic disorder, like SCD, could potentially predispose to fatal haemolytic episodes. There is however a dearth of paediatric studies on this subject. Aims and Objectives: To determine the prevalence and demographic determinants of G6PD deficiency in children with SCD. Methods: Red cell G6PD activity was determined in 115 steady-state sickle cell disease children aged 0.5 - 17 years, in steady state and equal number of age & gender-matched non-SCD controls using the quantitative method. A measured G6PD activity of U/gHb defined G6PD deficiency while values ≥6.97 U/gHb were regarded as normal. Data were analysed using SPSS version 20. Statistical analyses done include chi-square, student t-test and ANOVA. For all statistical analyses, p values less than 0.05 were considered significant. Results: There were 64 (55.7%) males and 51 (44.3%) females in each of the arms of the study. The mean age of the study population was 8.4 ± 4.7 years. Seven of the subjects were G6PD-deficient giving a prevalence of 6.1% which was not significantly different from the 7.0% obtained in the controls (p = 0.789). G6PD deficiency was more frequently encountered in the older age groups although the difference was not statistically significant (p = 0.438). Similarly, mean G6PD activity was highest in the under-5 age-group compared to the older age-groups analysed (p = 0.573). The condition was also commoner in the males than females although the difference did not attain statistical significance (p = 0.897). Conclusions: The prevalence of G6PD deficiency among SCD children was 6.1%. The condition is marginally commoner in males and older children.

Background: Glucose 6 phosphate dehydrogenase deficiency is a genetic disorder and incidence 400 million per year globally. It is X-linked inherited disorder affect males and rarely females also by lyonisation. Characterized by significant biochemical and molecular heterogeneity. Known for its grave complications like hemolysis, severe anemia, failure and severe jaundice following ingestion of fava beans and certain drugs. Prevalent in certain communities of India, hence routine newborn screening and Detection of g6pd deficiency is important to prevent grave complications.Methods: Prospective observational study carried out at Vani Vilas Children’s hospital attached Bangalore Medical college and research institute, from January 2016 to September 2016. All the newborns born at Vani Vilas Hospial included in the study by routine newborn screening.Results: A total of 9,136 neonates were included in this study. There were 5,013 males and 4,123 females. 37 neonates were found to be G-6-PD deficient, prevalence being 0.40%. The difference in the prevalence of G-6-PD deficiency in males 0.57% (n=29) and females 0.19% (n=8) was significant (p <0.002).Conclusions: Significant prevalence of g6pd in India. In our study, we found 1 G6PD deficiency in per 1000 population. Hence, we recommend screening for G6PD deficiency in all the newborns to prevent complications in future.

Introduction. Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency is the most common disorder detected.Objectives. This study aimed to assess the knowledge, self-perceived role, and experience of midwives who practice in urban and rural settings in educating parents of a newborn who are confirmed cases for G6PD deficiency.Method. One-on-one semi structured interview was conducted among 21 midwives from Manila City and Lipa, Batangas, Philippines.Results. The study findings indicate that midwives frequently serve as the primary information resource for parents of infants with G6PD deficiency. Assessment of knowledge showed that midwives have sufficient knowledge about the medical management and the necessary follow-up of infants with G6PD deficiency. However, it also revealed that they have inadequate knowledge of the underlying genetic cause of G6PD deficiency. The surveyed midwives recognized their role and the importance of proper education regarding G6PD deficiency.Conclusion. The findings of this study identified gaps in the midwives’ knowledge on the genetic mechanisms and inheritance of G6PD deficiency, which could be a basis to improve the education and dissemination of information and to eventually improve parental education and care of newborns with G6PD deficiency

Background: Glucose 6 phosphate dehydrogenase (G6PD)deficiency causes impaired production of reduced glutathione and in turn exposes red blood cells to damage by oxidative metabolites with resultant hemolysis. Objective: To study the spectrum of neonatal hyperbilirubinemia , to investigate the relevance of G6PD deficiency in unexplained causes of neonatal hyperbilirubinemia and to look for outcome in cases of deficiency of the enzyme. Material & methods: Cross sectional observational study done on 100 neonates. The inclusion criteria was babies born between 37 and 42 completed weeks of gestation with clinically evident jaundice and those of age upto seven days requiring admission in neonatal care unit .Their age, gender, religion, socioeconomic and residential status noted. History elicited from mother following informed consent and babies were examined clinically.Investigations included complete hemogram, total bilirubin with conjugated and unconjugated assay, red blood cell G6PD assay, thyroid profile and coomb’s test Result: The mean age (mean±s.d.) of patients was 4.5100± 1.4460 days. The study population of 100 babies included 69 males and 31 females with a male to female ratio of 2.23:1. G6PD testing showed deficiency in fifteen patients, whereas eighty five showed normal values of G6PD. All patients in the study population showed normal values of T3, T4, TSH and negative direct coomb’s test. G6PD assay showed a mean value of 9.7291± 2.5480. The mean total bilirubin (mean±s.d.) of patients with deficient G6PD was 20.4533 ± 2.2853 mg/dl. G6PD deficient group showed higher serum bilirubin assay compared to non- deficient ones. Conclusion: G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemiain neonates which can result in kernicterus with neurological damage. Early neonatal screening programmes should be implementedin areas where the deficiency is prevalent. Bangladesh Journal of Medical Science Vol. 21 No. 03 July’22 Page: 669-674

Background and Objectives Sickle cell anemia (SCA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency are both hereditary diseases of the red blood cells that cause hemolysis. The impact of the interaction of both conditions on the clinical and laboratory presentations of the affected persons is sparse. This study, therefore, correlated G6PD activity with disease severity in persons with SCA by comparing disease severity in G6PD-deficient SCA persons with those with normal G6PD activity. Methodology This cross-sectional study was conducted in the department of Haematology and Blood Transfusion of the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria. G6PD activity, SCA disease severity, and hematological parameters including reticulocyte counts and Heinz body estimation, bilirubin, and aspartate transaminase were estimated in 67 SCA persons. The results were compared between SCA persons with G6PD deficiency and those with normal enzyme activity. Results The prevalence of G6PD deficiency was found to be 23.9%. The G6PD-deficient SCA patients included 4 (25.0%) males and 12 (75.0%) females. G6PD deficiency was significantly higher in females ( P = .047). There was no significant difference in disease severity scores between G6PD-deficient and G6PD-nondeficient SCA patients. However, G6PD-deficient persons reported significantly higher episodes of severe vasoocclusive crisis (VOC) per annum ( P = .048). The hematological and biochemical parameters were similar between G6PD-deficient and G6PD normal SCA persons except that the G6PD-deficient SCA persons have significantly higher reticulocyte response ( P = .001). There was no correlation between disease severity resulting from reduced G6PD activity and Heinz body formation in SCA persons in the steady state. Conclusion G6PD deficiency significantly contributes to recurrent painful vasoocclusive crisis in SCA persons in the steady state.

Genetic Analysis in the Tanzania Sickle Surveillance Study (TS3): Modifiers of Sickle Cell Disease and Identification of Hemoglobin Variants