Results from a Pilot Study in the Portuguese Population on Newborn Screening for Sickle Cell Disease
The DBS samples were analyzed by Capillary Electrophoresis using two generations of instruments from the Sebia Capillarys range of automated systems.
The Portuguese Newborn Screening Program currently includes 28 conditions: Congenital Hypothyroidism, Cystic Fibrosis, 24 inborn errors of metabolism, Sickle Cell Disease, and Spinal Muscular Atrophy.
This pilot study on newborn screening for Sickle Cell Disease was conducted between May 2021 and December 2023 and involved more than 188,000 samples. Dried Blood Spots (DBS) samples were analyzed via Capillary Electrophoresis using the Sebia CAPILLARYS 2 Neonat Fast system during Phase I and the CAPILLARYS 3 DBS system during Phase II.
The results revealed an incidence of 1 case per 2,449 births, suggesting that this condition is of growing importance in Portugal, thus reflecting a general European trend, in which Sickle Cell Disease is already recognized as a public health issue.
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