Newborn Screening Program (NBS) for Early Detection of Sickle Cell Disease and G6PD: The Saudi Experience
Authors: Ezzat Hatoon , Alshehri Meshal , Alghamdi Ibrahim , Alshehri Fayez , Kariri Najwa , Albalawi Fayzah , Aldoaiji Nourah , Al Abdulaali Mohammed 
Published: December 2024

Sickle Cell Disease (SCD) and Glucose-6-Phosphate Dehydrogenase (G6PD) are prevalent genetic disorders worldwide, with high frequencies in Saudi Arabia. The CDC reported that SCD affects 1 in 365 African American births while about 1 in 13 African American babies are born with sickle cell trait (SCT). Early detection through Newborn Screening (NBS) is crucial for timely management and reducing complications. In 2014, an expert panel developed recommendations to prevent complications of SCD included prophylactic oral penicillin to reduce serious infections during first few years of life. Additionally, pneumococcal conjugate vaccination and parental education about early warning signs of infection. Children and adolescents aged 9 months or older with Sickle Cell Anemia (SCA) be offered treatment with hydroxyurea and screening for stroke by age or two years. Finally, early detection of SCD permits counselling for family members about disease management, future reproductive decisions, and early access to care. Performing newborn screening (NBS) can facilitate timely diagnosis, and initiation of early treatment. In April 2023, the Saudi Ministry of Health's (MOH) Blood Disorder Administration (BDA) have added hemoglobinopathies (SCD) and G6PD to the current mandatory national NBS panel for 16 inborn error of metabolism and endocrine disorders. This further permits the establishment of comprehensive care for screen-positive babies. NBS enables the parents to be informed about their child's disorder/carrier status and the necessary preventive methods for each specific disease (Padilla et al., 2021).

To establish comprehensive care for affected newborns and inform parents about preventive measures, the national Saudi NBS included testing for hemoglobin types (F, A, S, D, C, E) and G6PD for early access to care and integration into comprehensive management protocol as well as parent's education.

This quantitative study uses descriptive statistics based on data from Waqia (Saudi Public Health Authority) and BDA at MOH, analyzed using Microsoft Power BI. Heel prick blood samples were collected on filter paper between 24-72 hours of birth for high-performance liquid chromatography (HPLC) analysis. Positive results were confirmed through repeat testing. For SCA (FS) positive results, parents were contacted for NBS virtual clinic consultations with nurse and pediatric hematologist, for education, penicillin prophylaxis, initiation of vaccination and follow-up appointments. Positive SCT and G6PD results were communicated via SMS notifications which included confirming carrier status, educational links, and appointments with the nearest primary care center. Parents were able to call 937 (The national call center) for further inquiries.

From April 2023 to June 2024, the IHBD NBS program screened 331,151 newborns. Of these, 32,074 (10%) had positive results. 17,326 (5.2%) newborns tested positive for G6PD. SMS went to all parent's phone with test results, education material and an opportunity to call 937 while 14,748 (4.45%) tested positive for SCT of which 4,513 received SMS so far to ensure the carrier status, send education material and book with the nearest primary care center for further test repeat and follow up if needed. SCA (FS) was positive in 532 (0.16%) of newborns. The highest incidence of SCA was in Jazan (167 cases), followed by Hassa (70 cases) and Eastern Province (60 cases). The NBS virtual clinic has assessed 225 SCA cases, initiating management protocols, follow-ups, and referral to the nearest hemoglobinopathy clinic. The rest are being assessed at this time.

In conclusion, the NBS program for SCD and G6PD in Saudi Arabia has proven effective in early diagnosis and intervention. SCD and G6PD have been recently added to the current panel for NBS, leading to early disease detection, comprehensive care including early penicillin administration, vaccinations, decreasing morbidity and mortality and parental education.

The integration of SMS notifications is a new and unique measure taken by Saudi MOH and virtual clinics represents a novel approach in Saudi Arabia's healthcare ecosystem, aiming to reduce the healthcare burden associated with these genetic disorders. This is the first and largest report of national NBS program for hemoglobinopathies in Saudi Arabia, demonstrating significant progress in improving early detection and care.