Prevalence, aetiology, and treatment needs of neonates with G6PD deficiency in Central Peninsular Malaysia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide. Upon exposure to triggering substances, G6PD-deficient individuals can suffer severe complications, including acute haemolytic anaemia and neonatal hyperbilirubinaemia. This study aims to investigate the prevalence of G6PD deficiency among infants with neonatal jaundice (NNJ) in Malaysia and its association with sociodemographic characteristics, aetiology, and treatment needs. A cross-sectional study was conducted on 1,576 neonates who were admitted to the Special Care Nursery of Tuanku Jaafar Hospital, Seremban, Malaysia, between January and June 2018. Neonates were included if they had a total serum bilirubin (TSB) level of ≥ 5 mg/dL or 85 µmol/L. Consent was obtained and data were collected from the patients' admission file. Statistical analyses were conducted using the Chi-square and Fisher's exact tests. Results demonstrated that 66.1% (n = 1,042) neonates had NNJ, of which 5% (n = 79) were G6PD-deficient. The prevalence of G6PD deficiency was higher in males (89.9%, n = 71) than in females (10.1%, n = 8). The disorder was found to be highest in Malay (6.4%, n = 67), followed by Chinese (0.9%, n = 9), Others (0.2%, n = 2), and Orang Asli (0.1%, n = 1). No G6PD-deficient NNJ case was detected among the Indian ethnic group. Three main aetiologies in this cohort were breastfeeding jaundice, followed by breast milk jaundice, and G6PD deficiency. A total of 35 G6PD-deficient neonates required phototherapy (PT) for more than 48 h, 39 cases required PT for 3 to 4 days, and 5 cases required PT for more than 5 days. G6PD-deficient neonates required a significantly longer duration (> 48 h) of phototherapy (55.7%, n = 44, P < 0.01) and had a higher proportion requiring ET (5%, n = 4, P < 0.01) compared to G6PD-normal neonates. This study highlights the high prevalence of G6PD deficiency among Malaysian neonates, which contributes to a significant burden on the national healthcare and economic systems through longer hospital stays for NNJ treatment. Effective screening, early identification among jaundiced neonates, targeted parental education, and strengthened clinical management are warranted to reduce associated risks and improve neonatal outcomes.