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Publication
Prevalência ao nascimento da drepanocitose nos distritos de Lisboa e Setúbal: resultados preliminares do estudo-piloto de rastreio a 24.130 recém-nascidos
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Advisor(s)
Abstract(s)
As hemoglobinopatias são as doenças hereditárias mais frequentes a
nível mundial e que resultam de mutações que afetam os genes responsáveis pela síntese das cadeias de globina da hemoglobina. Trata-se
de uma patologia cada vez mais disseminada à escala global, e consequentemente, é cada vez maior a importância do rastreio neonatal da
drepanocitose para a diminuição da morbilidade e mortalidade através
de adoção de medidas preventivas o mais precocemente possível. Em
maio de 2021 iniciou-se, em Portugal, o estudo-piloto do rastreio neonatal da drepanocitose nos distritos de Lisboa e Setúbal. Num total de
24.130 recém-nascidos rastreados nestes distritos, identificaram-se
27 casos positivos e 626 portadores de variantes anormais de hemoglobina, dos quais 537 eram portadores de hemoglobina S. A partir de
fevereiro de 2022, este estudo-piloto foi alargado a nível nacional, passando a abranger todos os recém-nascidos em Portugal.
The haemoglobinopathies are the most common genetic disorders worldwide and result from mutations in the genes responsible for the synthesis of the globin chains of hemoglobin. It is an increasingly widespread pathology on a global scale, and consequently, the neonatal screening for sickle cell disease is very importante to reduce morbidity and mortality through the implementation of preventive measures as early as possible. In May 2021, the pilot study of neonatal screening for sickle cell disease start in Lisbon and Setúbal districts. In a total of 24130 newborns screened in these districts, we found 27 positive cases and 626 carriers of abnormal hemoglobin variants, of which 537 are hemoglobin S carriers. In February 2022, this pilot study was extended to all newborns in Portugal.
The haemoglobinopathies are the most common genetic disorders worldwide and result from mutations in the genes responsible for the synthesis of the globin chains of hemoglobin. It is an increasingly widespread pathology on a global scale, and consequently, the neonatal screening for sickle cell disease is very importante to reduce morbidity and mortality through the implementation of preventive measures as early as possible. In May 2021, the pilot study of neonatal screening for sickle cell disease start in Lisbon and Setúbal districts. In a total of 24130 newborns screened in these districts, we found 27 positive cases and 626 carriers of abnormal hemoglobin variants, of which 537 are hemoglobin S carriers. In February 2022, this pilot study was extended to all newborns in Portugal.
Description
Keywords
Drepanocitose Rastreio Neonatal Recém-Nascidos Hemoglobinopatias Doenças Hereditárias Doenças Genéticas Distritos de Lisboa Distritos de Setúbal Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2022 mai-ago;11(32):25-31
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP