Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Neonates Presenting with Indirect Hyperbilirubinemia in Neonatal Intensive Care Unit of Tertiary Health Care Center of Pakistan: Is the Trend Changing with Change in Consanguineous Marriages?

Introduction: G6PD is an X-linked enzyme that catalyzes the first step in the HMP pathway to produces NADPH which is required for regeneration of the reduced form of glutathione (GSH). GSH is essential for the detoxification of hydrogen peroxide, especially in RBCs, which rely only on this pathway. There has been some declining trend in consanguineous marriages since last 3 decades in Pakistan, so we are conducting this study to find out whether this change lead to decrease in the frequency of G6PD deficiency in the country. Materials and Methods: This was a prospective cross-sectional study, using non-probability consecutive sampling technique, conducted at the Neonatal Unit of Civil Hospital, Karachi during 2016-17, on 144 neonates with indirect hyperbilirubinemia. The study was approved by the Ethical Review Committee of the Civil Hospital, Dow University of Health Sciences Karachi. Results: The mean age ± SD of neonates was 10.63±3.48 days and the majority were males (68%). The majority of neonates presented after the 5th day of their life i.e. 87.5%. G6PD deficiency was present in 8.3% of the neonates with indirect hyperbilirubinemia. Consanguinity was present in around 50% of the neonates who presented with neonatal jaundice. The overall mean total serum bilirubin, hemoglobin, hematocrit and reticulocyte count were 15.57±2.87 (mg/dl), 14.22±0.48 g/dl, 45.57±3.31%, and 0.84±0.32 % respectively. Most of the mothers (22.2%) have blood groups AB +ve and B +ve and the most babies (28.5%) have A +ve blood group. Conclusion: Male gender and age 5 days or less had significantly high G6PD deficiency. Although consanguineous marriages have decreased only slightly, no significant effect on G6PD deficiency is found.