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[Neonatal screening for sickle cell disease in the Consorci Sanitari de Mataro. Rationale and first results]
A Cabot Dalmau1, M Casado Toda, J Barberán Pérez
1Servicio de Pediatria, Consorci Sanitari de Mataró, Barcelona.
Insights
Neonatal screening for sickle cell disease (SCD) is crucial for early detection in newborns. Hemoglobin electrophoresis is an effective method for identifying SCD in at-risk populations.
Area of Science:
- Hematology
- Genetics
- Public Health
Context:
- Sickle cell disease (SCD) is a significant health concern, particularly in populations with African ancestry.
- Neonatal screening allows for early identification of infants with SCD.
- Early intervention and prophylactic measures can reduce SCD-related mortality.
Purpose:
- To evaluate the feasibility and preliminary results of neonatal screening for SCD in an immigrant population from Sub-Saharan Africa.
- To determine the prevalence of sickle cell gene and disease in this specific demographic.
Summary:
- A neonatal screening program utilizing alkaline and acid hemoglobin electrophoresis was conducted on 82 black neonates of Sub-Saharan African origin.
- Preliminary findings indicate a sickle cell gene prevalence of 10.98% and a sickle cell disease prevalence of 1.22% in the screened population.
- The observed disease prevalence was slightly lower than anticipated.
Impact:
- Neonatal screening for SCD is essential for the black immigrant population.
- Alkaline and acid hemoglobin electrophoresis are validated and appropriate techniques for SCD screening.
- Early detection through screening facilitates timely management, potentially improving health outcomes for affected infants.
Objective:
Neonatal screening for sickle cell disease in prevalent population permits its early detection and provides the possibility of starting early prophylactic measures that will greatly reduce the high mortality of the disease.
Methods:
We expose the preliminary results of a neonatal screening for sickle cell disease, with alkaline and acid hemoglobin electrophoresis, selective for the black population coming from subsaharian Africa ad immigrated to our area. They are 82 black neonates born in our hospital between July 1995 and July 1997.
Results:
Despite they are too few, we can talk about a gene prevalence (S, C) of 10.98% (95% IC 4.21-17.74), and a disease prevalence (SS, CC, SC, S-betathalassemia) of 1.22% (95% IC 0.00-3.60) which is slightly lower that what we expected.
Conclusions:
Neonatal screening for sickle cell disease in the black immigrated is necessary, and alkaline and acid hemoglobin electrophoresis is an appropriate technique.