Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performe...

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Main Authors:	Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento, Laura Vilarinho
Format:	Article
Language:	English
Published:	MDPI AG 2025-01-01
Series:	International Journal of Neonatal Screening
Subjects:	newborn screening sickle cell disease capillary electrophoresis
Online Access:	https://www.mdpi.com/2409-515X/11/1/10
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