Related Experiment Videos
Neonatal screening for sickle cell disease in the Eastern Province of Saudi Arabia
Insights
Neonatal screening for sickle cell disease (SCD) identified 47 affected infants in Saudi Arabia. Higher than expected FS phenotypes suggest potential genetic factors contributing to SCD prevalence in the Eastern Province.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Sickle cell disease (SCD) is a significant global health concern.
- Neonatal screening programs are crucial for early detection and management of SCD.
- Establishing screening in Saudi Arabia's Eastern Province addresses regional health needs.
Purpose of the Study:
- To report the initial findings of a neonatal screening program for sickle cell disease in Saudi Arabia.
- To determine the prevalence of sickle cell trait and FS phenotype in the Eastern Province.
- To investigate any discrepancies between observed and predicted FS phenotype frequencies.
Main Methods:
- Cord blood samples were collected from newborns in three hospitals.
- Screening was conducted over a 17-month period.
- Sickle cell (FS) phenotype and sickle cell trait frequencies were analyzed.
Main Results:
- 5,630 cord blood samples were screened, identifying 47 infants with the FS phenotype.
- Sickle cell trait prevalence varied by location: 4.4% (Al Khobar), 6.7% (Dammam), and 17.9% (Qatif).
- An excess of the FS phenotype was observed compared to predictions based on S gene frequency across all centers.
Conclusions:
- The neonatal screening program successfully identified infants with sickle cell disease.
- The observed excess of FS phenotypes warrants further investigation.
- Potential contributing factors include sickle cell-beta o thalassaemia and non-random mating patterns.
Abstract:
Neonatal screening for sickle cell disease has been established in three hospitals in the Eastern Province of Saudi Arabia. In the first 17 months of this programme, 5630 cord blood samples were screened with the detection of 47 babies with an FS phenotype. The sickle cell trait occurred in 4.4% births in Al Khobar, in 6.7% in Dammam and in 17.9% in Qatif. An apparent excess of the FS phenotype over that predicted from the observed S gene frequency occurred at all three centres. The cause of this excess remains unknown although a high prevalence of sickle cell-beta o thalassaemia and the effects of non-random mating may be contributory factors.