Molecular Screening of Glucose-6-Phosphate Dehydrogenase Among Deficient Children Aged 0-5 Years with Plasmodium falciparum Malaria in Katsina State, Nigeria (original) (raw)

Molecular Screening of Glucose-6-Phosphate Dehydrogenase Among Deficient Children Aged 0-5 Years with Plasmodium falciparum Malaria in Katsina State

G6PD deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas. The aim of this study is to molecularly screen G6PD enzyme among deficient children (aged 0-5 years) with Plasmodium falciparum malaria in Katsina State, North-western Nigeria, and a region with no any molecular information on G6PD enzyme. A total of 200 blood samples were collected from children with Plasmodium falciparum malaria attending six selected hospitals located across the three senatorial zones of the state from March 2015 to May 2015. G6PD deficiency was detected qualitatively using G6PD screening test. Polymerase Chain Reaction (PCR) of 7 samples (6 deficient and 1 control) shows the presence of G202A mutation in all the samples. The nucleotides sequence obtained from sequencing reaction of one deficient and one control samples are 97% homologous to other G6PD genes of different strains. This study has indicated a high prevalence of G6PD deficiency among the study population. Based on the results obtained, there is a need for the routine screening of children for G6PD deficiency in our environment and training of paediatricians in order to avoid cases of drug-induced anaemia, particularly in the treatment of malaria.

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

Asian Journal of Biotechnology and Bioresource Technology

Aims: To determine the prevalence of glucose-6-phosphate dehydrogenase deficiency and its variant (G6PD A-) among children diagnosed with Plasmodium falciparum malaria in Katsina state, Nigeria. Study Design: Cross-Sectional Studies. Place and Duration of Study: General Hospitals Katsina, Dutsin-ma, Daura, Baure, Malumfashi and Funtua of Katsina state, Nigeria from June, 2020 to December, 2020. Methodology: A total of 200 blood samples were collected from the study subjects after getting the ethical approval and informed consent. Their socio-demographic information and clinical presentations were also noted with the aid of questionnaire. G6PD deficiency was detected using G6PD qualitative test. Molecular characterization of African A- Variants was carried out using PCR and Sanger sequencing. Phylogenetic studies were carried out to analyze the relationship between the types of mutations found in Nigeria and other countries. Results: The G6PD qualitative test shows that 35(17.5%) sam...

Prevalence of Glucose-6-phosphate Dehydrogenase Deficiency Among Children Aged 0-5 Years Infected with Plasmodium falciparum in Katsina State, Nigeria

About 96 million people having Glucose-6-phosphate dehydrogenase (G6PD) deficiency worldwide are known to reside in malaria endemic countries and this G6PD-deficiency has been shown to protect against malaria infection, a disease which affect mostly children less than 5 years of age. This study was prompted by the paucity of scientific information on G6PD deficiency for malaria-infected children in Nigeria and so it was designed to determine the prevalence of G6PD deficiency among children (aged 0-5 years) infected with Plasmodium falciparum in Katsina State, a Northwestern region of Nigeria. A total of 200 blood samples were collected from children with Plasmodium falciparum malaria attending the six selected hospitals located across the three senatorial zones of the state from March 2015 to May 2015. Children's inform consent was obtained, their socio-demographic information and clinical presentations were also taken with the aid of structured questionnaire. G6PD deficiency was detected qualitatively using G6PD screening test. Thirty two (16%) samples were G6PD deficient and were significantly associated (p<0.05) with malaria. Higher prevalence was observed among male children (62.5%) compared with their female counterpart (37.5%). Prevalence rates of 31.25%, 25.00%, 18.75% and 12.50% were seen in children of 1, 2, 3, 4 and 5 years old respectively. These conditions reach lifethreatening scenarios for all G6PD deficiency patients with different genetic variants. Hence, individuals that are required to use antimalaria drugs should be screened very carefully for their tendency to have G6PD deficiency. For effective control and treatment, either a reliable test for detecting G6PD deficiency or an anti-malaria drug that can be safely given to G6PD deficiency patients is required. The need for training paediatricians on routine screening of children for G6PD deficiency in developing countries in order to avoid cases of drug-induced anaemia associated with malaria treatment need to be taken into consideration.

Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana

PLOS ONE, 2021

Introduction The global effort to eradicate malaria requires a drastic measure to terminate relapse from hypnozoites as well as transmission via gametocytes in malaria-endemic areas. Primaquine has been recommended for the treatment of P. falciparum gametocytes and P. vivax hypnozoites, however, its implementation is challenged by the high prevalence of G6PD deficient (G6PDd) genotypes in malaria endemic countries. The objective of this study was to profile G6PDd genotypic variants and correlate them with malaria prevalence in Ghana. Methods A cross-sectional survey of G6PDd genotypic variants was conducted amongst suspected malaria patients attending health care facilities across the entire country. Malaria was diagnosed using microscopy whilst G6PD deficiency was determined using restriction fragment length polymorphisms at position 376 and 202 of the G6PD gene. The results were analysed using GraphPad prism. Results A total of 6108 subjects were enrolled in the study with females...

Fine Mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency in a Rural Malaria Area of South West Odisha Using the Clinical, Hematological and Molecular Approach

Introduction: The aim of the study was to enumerate the clinical, hematological, and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha. Methods: Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire. Molecular characterization of G6PD deficiency was done using PCR-RFLP and Sanger sequencing. Results: A total of 1981 individuals were screened; among them, 59 (2.97%) individuals were G6PD deficient. The analysis revealed that G6PD deficiency was more among males (4.0%) as compared to females (2.3%). Prevalence of G6PD deficiency was significantly higher among tribal populations (4.8%) as compared to non-tribal populations (2.4%) (p=0.012, OR=2.014, 95%CI=1.206-3.365). Twenty four individuals with G6PD deficiency had mild to moderate anemia, whereas 26 G6PD deficient individuals had a history of malaria infection. Among them, 3 (11.5%) required blood transfusion during treatment. Molecular analysis revealed G6PD Orissa as the most common (88%) mutation in the studied cohort. G6PD Kaiping (n=3), G6PD Coimbra (n=2) and G6PD Union (n=1) were also noted in this cohort. Conclusion: The cumulative prevalence of G6PD deficiency in the present study is below the estimated national prevalence. G6PD deficiency was higher among tribes as compared to nontribes. Clinical significance for G6PD deficiency was noted only in malaria infected individuals. Rare G6PD Kaiping and G6PD Union variants were also present.

Glucose-6-Phosphate Dehydrogenase Deficiency and Malaria Infections in Brazil

Journal of Pharmacy and Pharmacology 10 (2022) 41-48, 2022

G6PD deficiency (G6PDd) affects about 400 to 500 million individuals around the world and is widely distributed in regions of the Mediterranean, Asia and Africa. It is also known for being the most common enzymopathy. This is a recessive inheritance pattern linked to the X chromosome, with more than 185 variants already described, all of which are related to enzyme deficiency of varying intensity. Regions with high rates of malaria infection require rapid diagnosis of G6PDd because the drugs used in the therapeutic scheme for the radical cure of malaria, such as primaquine (PQ) and tafenoquine, present restrictions for people with G6PDd due to the drugs' ability to induce hemolysis and increase the risk of hospitalizations. In this context, considering the genetic alterations in G6PD and its possible implications in the treatment of malaria of the northern region of Brazil; the purpose of this study was to conduct a review of the last 17 years of literature on G6PD deficiency and malaria in Brazil. Papers were selected from the Medline/PubMed, LILACS and SCIELO databases, and publications between 2004 and 2021 that had a relationship with the topic were considered. After the inclusion and exclusion criteria were applied, 23 papers were selected for full-text analysis and development of the revision. In conclusion, the genotyping of G6PDd indicates the prevalence of the African variant, G6PD A-(G202A/A376G), which is the most common in Brazil and is a risk factor in the treatment of malaria due to its enzymatic phenotype. Therefore, the search for better, faster, easy-to-handle and low-cost screening tools for G6PD enzyme levels are essential for diagnosing deficiency before administering primaquine and tafenoquine in conventional doses, and thus reduce the chances of the patients developing complicated malaria.

Glucose-6-phosphate dehydrogenase deficiency and malaria

Journal of Molecular Medicine, 1998

Glucose-6-phosphate dehydrogenase (G6PD) is a cytoplasmic enzyme that is essential for a cell's capacity to withstand oxidant stress. G6PD deficiency is the commonest enzymopathy of humans, affecting over 400 million persons worldwide. The geographical correlation of its distribution with the historical endemicity of malaria suggests that 66PD deficiency has risen in frequency through natural selection by malaria. This is supported by data from in vitro studies that demonstrate impaired growth of P. falciparum parasites in G6PD-deficient erythrocytes. Attempts to confirm that G6PD deficiency is protective in field studies of malaria have yielded conflicting results, but recent results from large case control studies conducted in East and West Africa provide strong evidence that the most common African G6PD deficiency variant, G6PD A-, is associated with a significant reduction in the risk of severe malaria for both G6PD female heterozygotes and male hemizygotes. The effect of female homozygotes on severe malaria remains unclear but can probably be assumed to be similar to that of comparably deficient male hemizygotes.

Glucose-6-phosphate dehydrogenase deficiency and reduced haemoglobin levels in African children with severe malaria

Malaria Journal, 2016

Background: Extensive studies investigating the role of host genetic factors during malaria associate glucose-6-phosphate dehydrogenase deficiency with relative protection. G6PD deficiency had been reported to associate with anti-malarial drug induced with haemolytic anaemia. Methods: A total of 301 Gabonese, Ghanaian, and Kenyan children aged 6-120 months with severe malaria recruited in a multicentre trial on artesunate were included in this sub-study. G6PD normal (type B), heterozygous (type A +) and deficient (type A −) genotypes were determined by direct sequencing of the common African mutations G202A and A376G. Furthermore, multivariate analyses were executed to associate possible contributions of G6PD deficiency with baseline haemoglobin levels, parasitaemia and with severe malarial anaemia. Results: Two hundred and seventy-eight children (132 females and 146 males) were successfully genotyped for G6PD variants. The overall prevalence of G6PD deficiency was 13 % [36/278; 3 % (4/132) female homozygous and 22 % (32/146) male hemizygous], 14 % (40/278) children were female heterozygous while 73 % (202/278) were G6PD normal [67 % (88/132) females and 78 % (114/146) males] individuals. Multivariate regression revealed a significant association of moderately and severely deficient G6PD genotypes with haemoglobin levels according to the baseline data (p < 0.0001; G6PD heterozygous: p < 0.0001; G6PD deficient: p = 0.009), but not with severe malarial anaemia (p = 0.66). No association of G6PD genotypes with baseline parasitaemia. Conclusions: In this study, moderately (type A +) and severely (type A −) G6PD deficiency showed significant association with lower haemoglobin concentrations at baseline in African children with severe malaria without leading to severe malarial anaemia. In addition, there was no association of G6PD variant types with parasite densities on admission.