Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity

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dc.contributor.authorSantos, Helena Pimentel Dos
dc.contributor.authorDomingos, Claudia Regina Bonini [UNESP]
dc.contributor.authorCastro, Simone Martins De
dc.contributor.institutionServiço de Referência em Triagem Neonatal
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade Federal do Rio Grande do Sul
dc.contributor.institutionHospital Materno Infantil Presidente Vargas
dc.date.accessioned2021-07-14T10:54:59Z
dc.date.available2021-07-14T10:54:59Z
dc.date.issued2021-06-14
dc.description.abstractSickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide. Through neonatal screening programs, it is possible to reduce morbidity and mortality in the first 5 years of life. The prophylactic use of penicillin, the anti-pneumococcal vaccine and other intensive care, increase the survival and quality of life of people with SCD. The aim of this study is to present the 20-year history of screening for hemoglobinopathies in Brazil and its challenges. From 2001 to 2019, an average of 2,400,000 children were screened per year nationwide, with the coverage being of 82,16%. The screening of 54,9% of newborns is collected up to their 5th day of life. The prevalence of SCD was 1:2,263 newborns; therefore, it was the second most-common disease detected by the program of Brazil, being only after hypothyroidism (1/2,175 live births). The healthcare system should provide the necessary infrastructure to confirm the diagnosis of newborns and to provide appropriate counseling and treatment. The early diagnosis and treatment, as well as the follow-up with a multidisciplinary team, are fundamental to the survival rate and the quality of life of patients.en
dc.description.affiliationServiço de Referência em Triagem Neonatal
dc.description.affiliationUniversidade Estadual Paulista, Departamento de Biologia
dc.description.affiliationUniversidade Federal do Rio Grande do Sul, Faculdade de Farmácia
dc.description.affiliationHospital Materno Infantil Presidente Vargas, Serviço de Referência em Triagem Neonatal
dc.description.affiliationUnespUniversidade Estadual Paulista, Departamento de Biologia
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1590/2326-4594-JIEMS-2021-0002
dc.identifier.citationJournal of Inborn Errors of Metabolism and Screening. Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT), v. 9, p. -, 2021.
dc.identifier.doi10.1590/2326-4594-JIEMS-2021-0002
dc.identifier.fileS2326-45942021000100314.pdf
dc.identifier.issn2326-4594
dc.identifier.lattes3279428066176719
dc.identifier.orcid0000-0002-4603-9467
dc.identifier.scieloS2326-45942021000100314
dc.identifier.urihttp://hdl.handle.net/11449/213414
dc.language.isoeng
dc.publisherLatin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
dc.relation.ispartofJournal of Inborn Errors of Metabolism and Screening
dc.rights.accessRightsAcesso aberto
dc.sourceSciELO
dc.subjectNewborn screeningen
dc.subjectSickle Cell Disorderen
dc.subjectBrazilen
dc.subjectNational Programen
dc.titleTwenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneityen
dc.typeArtigo
unesp.author.lattes3279428066176719[2]
unesp.author.orcid0000-0002-4603-9467[2]
unesp.author.orcid0000-0001-6707-9698[3]

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