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

2025-01-27Journal article Open access
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datacite.subject.fosCiências Médicas
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorRodrigues, Diogo
dc.contributor.authorMarcão, Ana
dc.contributor.authorLopes, Lurdes
dc.contributor.authorVentura, Ana
dc.contributor.authorFaria, Teresa
dc.contributor.authorFerrão, Anabela
dc.contributor.authorGonçalves, Carolina
dc.contributor.authorKjöllerström, Paula
dc.contributor.authorCastro, Ana
dc.contributor.authorFraga, Sofia
dc.contributor.authorAlmeida, Marta
dc.contributor.authorMaia, Tabita
dc.contributor.authorGomes, João
dc.contributor.authorLachado, Ana
dc.contributor.authorGuerra, Isabel
dc.contributor.authorFerreira, Fátima
dc.contributor.authorTrigo, Fernanda
dc.contributor.authorBento, Celeste
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2025-03-06T10:53:48Z
dc.date.available2025-03-06T10:53:48Z
dc.date.issued2025-01-27
dc.description.abstractThe 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 performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts and phase II, including 164,087 newborns, in the whole country. DBS samples were analyzed through capillary electrophoresis. In phase I, a high birth incidence of sickle cell disease was found (1:928 NBs), resulting from the identification of 24 HbSS and 2 HbSC patients. This birth incidence decreased but remained significant when the pilot study for sickle cell disease newborn screening was expanded to a national level, with the identification of 67 sickle cell disease patients (59 HbSS and 8 HbSC), revealing a birth incidence of 1:2449 NBs. These data suggest that this condition is becoming increasingly relevant in Portugal, thus reflecting a general European trend, where sickle cell disease is already recognized as a public health problem. Therefore, it highlights the importance of its integration into the Portuguese National Newborn Screening Program panel in January 2024, thus allowing the early identification and clinical follow-up of these patients.eng
dc.description.sponsorshipThe funding for the pilot study was The funding for the pilot study was provided by the NATIONAL INSTITUTE OF HEALTH DOCTOR RICARDO JORGE, which supports the National Neonatal Screening Program.provided by the NATIONAL INSTITUTE OF HEALTH DOCTOR RICARDO JORGE, which supports the National Neonatal Screening Program.
dc.identifier.citationInt J Neonatal Screen. 2025 Jan 27;11(1):10. doi: 10.3390/ijns11010010
dc.identifier.doi10.3390/ijns11010010
dc.identifier.eissn2409-515X
dc.identifier.pmid39982344
dc.identifier.urihttp://hdl.handle.net/10400.18/10413
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2409-515X/11/1/10
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCapillary Electrophoresis
dc.subjectNewborn Screening
dc.subjectSickle Cell Disease
dc.subjectGenetic Diseases
dc.subjectPortuguese Newborn Screening Program
dc.subjectDoenças Genéticas
dc.subjectPortugal
dc.titleNewborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Populationpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage10
oaire.citation.titleInternational Journal of Neonatal Screening
oaire.citation.volume11
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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