Prevalence of Mediterranean Mutation of Glucose 6 Phosphate Dehydrogenase in Children of Malak Din Khel Subtribe of Afridi

Objective: To determine the prevalence of Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency in the Malak Din Khel subtribe, the biggest subtribe of Afridi, with expectations of newer findings in the area of medicine and research.Study Design: Cross-sectional study.Place and Duration of Study: This study was conducted in District Khyber from March 2018 to August 2018.Materials and Methods: The sample size of this study was 177 preschool-going children of 4-5 years of age. Multistage cluster sampling was done. Only resident families of Khyber Agency were selected. Children of age 04 to 05 years were enrolled in the study after consent from a parent/ guardian. Children with major comorbidities, non-consenting parents/ guardians, and children transfused in the last 24-48 hours were excluded from the study. 05 ml of blood was collected from each child. G6PD qualitative tests were performed in the field; rest of the tests were carried out later at Dabgari Garden “”in lab. PCR was processed according to protocol. Data were analyzed by SPSS 26.0.Results:  A total sample size of 177 respondents were initially investigated through a qualitative test for G6PD deficiency. Among these, only 4 (2.3%) respondents were found to be G6PD deficient, The PCR analysis depicted that among 177 respondents, 31 (17.5%) were found to be mutant. Among these, 26(84%) were heterozygous, while 5 (16%) respondents were found to be homozygous. The PCR analysis further revealed that among the 5 homozygous respondents, 3 were found to be G6PD deficient, as also depicted by the qualitative test. One of the homozygous respondents, although found deficient by qualitative test, showed no Mediterranean mutation.Conclusion: Most studies done in Pakistan are hospital-based and the method for diagnosing is a qualitative test, but if the G6PD enzyme activity level is more than 30% qualitative test cannot pick the respondent as deficient. In our study, we ran qualitative tests on all respondents and only 4/177(2.3%), followed by PCR analysis for Mediterranean mutation of all samples, which showed that 31/177 (17.5%) were G6PD deficient. Further studies need to be conducted in the same manner to know the exact prevalence of G6PD. Detailed studies in other ethnic groups of the country must also be conducted to highlight the actual position of this threat.