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

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%) samples were G6PD deficient which indicates significant association (P<0.05) between G6PD and malaria. The PCR and sequence analysis of the 35 G6PD deficient samples shows the presence of G202A mutations in only 7(20.0%) samples. However, the BLAST analysis of the nucleotide sequences has shown 98.73% - 100% homology with other sequences of G6PD from the NCBI database. The bioinformatics analysis revealed G6PD mutations which indicate a Guanine to Adenine mutations at amino acid number 68 substitution of valine to methionine.

Conclusion: This study has shown a high prevalence of G6PD deficiency among children diagnosed with Plasmodium falciparum malaria in Katsina State, North-western Nigeria. Polymerase Chain Reaction, NCBI blast, Phylogenetic and Bioinformatics analysis of the deficient samples shows that G202A mutation in relation to the deficient children was not statistically significant (p>0.05), hence does not appear to have a role in G6PD deficiency among children in the selected area of Katsina state, Nigeria though our findings were limited by the small sample size.