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Published on: August 25, 2014
[Sickle cell disease neonatal screening. First evaluation]
Insights
Neonatal screening for sickle cell disease in Senegal identified significant hemoglobinopathy rates (11.1%) in newborns. Early detection and management through screening programs can improve quality of life and life expectancy.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Context:
- Sickle cell syndromes pose a significant health burden, particularly in regions like Senegal.
- Neonatal screening enables early diagnosis and intervention, crucial for improving outcomes in affected children.
- A preliminary screening program was established for Senegalese newborns.
Purpose:
- To assess the feasibility and prevalence of hemoglobinopathies in Senegalese newborns through a pilot screening program.
- To evaluate the effectiveness of isoelectrofocalisation for neonatal sickle cell screening.
- To provide data supporting the implementation of a national sickle cell neonatal screening program.
Summary:
- The study analyzed 478 Senegalese newborns (aged 1-4 days) using isoelectrofocalisation on dried blood eluates.
- Hemoglobinopathies were detected in 11.1% of infants: 9% with heterozygous FAS/FAC, 0.2% with FSC, and 1.9% with FSS.
- These findings highlight the substantial prevalence of sickle cell disease and related conditions in the target population.
Impact:
- Implementing a sickle cell neonatal screening program is crucial for early management, improving quality of life and life expectancy.
- Integrating screening with information, training, and genetic counseling can help reduce homozygote births and disease spread.
- Economic considerations support the imperative implementation of neonatal screening for sickle cell disease.
Abstract:
A neonatal screening allows a preclinical diagnosis of major sickle cell syndromes and an early management of the affected children. That would improve their life quality and expectancy. The preliminary program was set up on 518 senegalese newborn aged from 1 to 4 days, and coming from all the country ethnic groups. Isoelectrofocalisation is the test used on dried blood eluate and the positive control on citrate agar gel. 478 samples out of 518 (92.5%) have been analysed. Haemoglobinopathy have been found in 11.1% of cases, distributed as follow: heterozygoty FAS and FAC: 9%, double heterozygoty FSC: 0.2% and homozygoty FSS: 1.9%. Sickle cell neonatal screening should be imperatively implemented, with regards in economical considerations. It would be relevant to integrate it in a larger program including information, training and genetic counselling in order to avoid homozygotes birth and to lower the spread of this disease.
