Early Detection and Management of Glucose-6-Phosphate Dehydrogenase Deficiency through Newborn Screening: A Case Study and Public Health Perspective

Abstract

Newborn screening is a crucial public health program aimed at early detection of genetic, metabolic and endocrine disorders in infants, enabling prompt intervention to prevent long-term complications and improve outcomes. This study focuses on the importance of screening for conditions such as Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency a hereditary enzyme disorder that can cause life-threatening hemolysis. The case study of a 3-day-old infant diagnosed with G6PD deficiency highlights the significance of early diagnosis through newborn screening. Following diagnosis, parental counseling, trigger avoidance and vaccination were emphasized to manage the condition effectively. The study advocates for the integration of G6PD screening into routine neonatal screening programs particularly in regions with high endemicity to ensure timely interventions, reduce morbidity and enhance quality of life. The findings underscore the critical role of early detection, caregiver education and healthcare policy integration in improving outcomes for infants with genetic and metabolic disorders.