SCREENING FOR G6PD DEFICIENCY AMONG NEONATES WITH NEONATAL JAUNDICE ADMITTED TO NEONATAL INTENSIVE CARE UNIT SAIDU GROUP OF TEACHING HOSPITAL SWAT

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymatic disorder that predisposes affected neonates to hemolysis and severe hyperbilirubinemia, increasing the risk of kernicterus and long-term neurological complications. Early identification is crucial to prevent severe outcomes. Despite its clinical significance, limited local data exist regarding the prevalence of G6PD deficiency among neonates with jaundice in Pakistan. This study aimed to determine the frequency of G6PD deficiency in neonates presenting with neonatal jaundice.

Objective: To assess the prevalence of G6PD deficiency among neonates with neonatal jaundice admitted to the neonatal intensive care unit.

Methods: A cross-sectional study was conducted at the neonatal nursery of Saidu Group of Teaching Hospital, Swat, from May 2023 to August 2023, following ethical committee approval. Neonates with jaundice and predominant unconjugated hyperbilirubinemia were included, with a serum bilirubin threshold of ≥15 mg/dL for term infants and ≥12 mg/dL for preterm infants. Neonates with conjugated bilirubin >20% of total bilirubin, prior blood transfusion, or prior treatments affecting bilirubin metabolism were excluded. Venous blood samples (2–3 mL) were collected and analyzed for G6PD enzyme activity using whole blood with EDTA as an anticoagulant. Statistical analysis was performed using SPSS version 16. Categorical variables were expressed as frequencies and percentages, while continuous variables were reported as mean ± standard deviation. Chi-square test was used to evaluate associations, with p<0.05 considered statistically significant.

Results: Among 208 screened neonates, 171 (82.2%) were term and 37 (17.8%) were preterm. The mean total serum bilirubin was 18.03 ± 13.4 mg/dL, indirect bilirubin was 16.55 ± 2.91 mg/dL, and direct bilirubin was 0.54 ± 0.26 mg/dL. The mean birth weight was 2.7 ± 0.375 kg (range: 2.0–3.6 kg). The mean age at presentation was 4.52 ± 3.04 days (range: 2–17 days). G6PD deficiency was detected in 17 (8%) neonates. No statistically significant association was found between G6PD deficiency and gestational age (p=0.537), age at presentation (p=0.321), indirect bilirubin levels (p=0.220), or birth weight (p=0.310).

Conclusion: G6PD deficiency was identified as a contributing factor in neonatal jaundice, with a prevalence of 8% among the study population. Routine neonatal screening for G6PD deficiency, particularly in high-prevalence regions, may facilitate early diagnosis and timely management to prevent severe complications.