Implementing Point-of-Care Newborn Screening for Sickle Cell Disease in Sudan: Cross-sectional Evidence from Khartoum State

Abstract

Background: Sickle cell disease (SCD) is responsible for 50–90% of under-five mortality in sub-Saharan Africa. Delayed SCD detection beyond infancy prevents early comprehensive treatment and leads to the tragic progression of the disease. This research aims to determine the prevalence of sickle cell anemia (SCA) in neonates in Khartoum State using a point-of-care (POC) test. Methods: This was a descriptive, hospital-based, cross-sectional study conducted in Khartoum state from August 2021 to January 2022. In total, 111 neonates from each selected hospital were tested with a POC test to determine their hemoglobin phenotype, and a simple questionnaire was used to collect demographic characteristics. Results: Of the 333 neonates included in the study, 156 (46.8%) were male, and 177 (53.2%) were female. A total of 179 neonates belonged to the Afro-Asiatic ethnicity (53.8%), 130 (39%) to the Nilo-Saharan, and 24 (7.2%) to the Niger-Congo. While SCA was detected in 1 (0.3%) neonate, 23 (6.9%) neonates were heterozygous for Hb AS; of these, 17 (73.9%) had no family history of the disease. Hb AC was also detected in one neonate, representing 0.3% of the study population. Conclusion: This study demonstrated the feasibility and efficiency of POC testing for detecting abnormal hemoglobin phenotypes in neonates. However, limited confirmatory testing and low public awareness highlight the urgent need for comprehensive neonatal screening programs. Both early detection and public education are crucial for timely intervention and reducing SCD-related morbidity and mortality in Sudan