THỰC TRẠNG THIẾU MEN G6PD Ở TRẺ SƠ SINH TRÊN KẾT QUẢ SÀNG LỌC MẪU MÁU GÓT CHÂN TẠI BỆNH VIỆN ĐA KHOA NINH THUẬN TỪ NĂM 2019 ĐẾN 2024

Abstract

Background: Neonatal screening (NNS) is vital for the early detection and timely intervention of congenital conditions, including Glucose-6-phosphate dehydrogenase (G6PD) deficiency, thereby reducing disability risks and enhancing population quality. G6PD deficiency is the most common enzyme defect in humans, causing neonatal jaundice and hemolysis, which can lead to death or permanent brain damage if not diagnosed and treated promptly. Objective: This study aimed to determine the prevalence of G6PD deficiency in newborns and investigate associated factors at Ninh Thuan General Hospital. Methods: This retrospective descriptive study was conducted on 20,601 newborns at Ninh Thuan General Hospital from October 2019 to December 2023. Heel-prick blood samples were screened for G6PD deficiency. Data were collected and analyzed using SPSS 22 software, employing descriptive statistics and Chi-squared tests with a 95% confidence level. Results: The NNS rate at the hospital was 55%. The prevalence of G6PD deficiency was recorded as 2.5% (522/20,601). The study indicated a male predominance (69.3%) among G6PD deficient cases. Factors such as residence in rural areas and belonging to ethnic minority groups were significantly associated with higher disease prevalence. Maternal age, gestational age, and birth weight showed no clear association with G6PD deficiency. Conclusion: Neonatal screening plays a crucial role in the early detection of G6PD deficiency, a common genetic disorder. The higher prevalence in male infants, those from rural areas, and ethnic minority groups in Ninh Thuan highlights the need for appropriate interventions and counseling strategies