Evaluation of a neonatal screening program for sickle‐cell disease

Objective: Evaluate the Neonatal Screening Program of the Health Secretariat of the State of Santa Catarina for sickle‐cell disease, from January 2003 to December 2012, regarding program coverage and disease frequency. Methods: Descriptive, observational, cross‐sectional study with retrospective data collection. The variables analyzed were: number of live births in the State of Santa Catarina; number of screened children; number of children diagnosed with sickle‐cell trait and sickle‐cell disease; type of sickle‐cell disease diagnosed; age at the time of sample collection, ethnicity/skin color, gender, and origin of children with sickle‐cell disease. Descriptive measures and frequency tables were used for data analysis. Results: During the study period, there were 848,833 live births and 730,412 samples were screened by the program, resulting in a coverage of 86.0%. There were 6173 samples positive for sickle‐cell trait and 39 for sickle‐cell disease. Among children with sickle‐cell disease, the median age at the time of sample collection was 6 days. Regarding the ethnicity/skin color, 25 (64.1%) children were white, seven were black, and seven others were not specified. The Midwest and the Highland (Planalto Serrano) of Santa Catarina were the regions with the highest incidence of sickle‐cell disease. Conclusion: Coverage by the Neonatal Screening Program of Santa Catarina is good, but did not demonstrate an improvement trend over the years. The frequency of sickle‐cell disease is low and lower than in the North, Northeast, and Midwest regions. The median age in days at the time of collection is older than the age recommended by the Ministry of Health