Doença Falciforme E Triagem Neonatal: Um Debate Necessário

Souza, Ionara Magalhães de; Araújo, Edna Maria de

doi:10.13102/rscdauefs.v5i1.1011

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…Although treatable, sickle cell disease only has the possibility of cure through the transplantation of related allogeneic hematopoietic stem cells, as established by the Ministry of Health, in Ordinance 298 of February 9, 2018 (3) . In this sense, it is important that the disease is detected in the family, in order to avoid its heredity through genetic counseling, for the prevention of complications, increased survival, improvement of quality of life and control of disease frequency (5) .…”

Section: Introductionmentioning

confidence: 99%

(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study

et al. 2022

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Objective: to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. Methods: this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. Results: all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. Final considerations: diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.

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Section: Introductionmentioning

confidence: 99%

(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study

et al. 2022

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“…822 of Ministry of Health was published, giving rise to the National Neonatal Screening Program, which aims to cover all live births in the Brazilian territory. Since then, all states in the country have become part of the program, which allowed the timely diagnosis of asymptomatic diseases in the neonatal period for early intervention with prophylactic measures and specific treatments to reduce or even prevent physical and mental sequelae [6,7,8].…”

Section: Introductionmentioning

confidence: 99%

Sickle Cell Anaemia Prevalence among Newborns in the Brazilian Amazon-Savanna Transition Region

Souza¹,

Neto

Santos

et al. 2019

IJERPH

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Sickle cell anaemia is one of the most common hemoglobinopathies worldwide and an important public health problem in Brazil. This study evaluated the prevalence of sickle cell anaemia and its traits in newborns from the Amazon-Savanna Transition Region in the state of Maranhão, Brazil. A cross-sectional study was carried out, based on data from neonatal screening tests performed in 2013–2015 in Maranhão. The Hardy-Weinberg theorem was applied to analyse the frequency of expected homozygotes based on HbSS phenotype. A spatial-temporal distribution analysis was performed to delimit the regions with the greatest number of newborn cases with sickle cell anaemia. Of 283,003 newborns, 162 were found to have sickle cell anaemia, while 10,794 had a sickle cell trait, with a prevalence of 0.05% and 3.8%, respectively. The prevalence of expected homozygotes was higher in the North Region and in the state capital of Maranhão. This study may contribute to existing social and public health actions or the creation of new strategies for sickle cell disease in endemic areas in Brazil to improve the quality of life.

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A Importância da Triagem Neonatal para a Detecção Precoce da Anemia Falciforme

Reis

Barbosa

Araújo

et al. 2021

RSD

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Anemia falciforme é uma doença genética, transmitida por uma herança autossômica recessiva, representada pela existência de eritrócitos em forma de foice, e de grande prevalência no Brasil. Os portadores dessa patologia são assintomáticos nos primeiros seis meses de vida. O diagnóstico precoce dá-se através da triagem neonatal, permitindo o acompanhamento dos pacientes antes das manifestações e da sintomatologia e, com isto, a prevenção das possíveis sequelas e complicações. Este estudo foi realizado por meio de uma pesquisa bibliográfica qualitativa e quantitativa, tendo como objetivo demonstrar, apontar e correlacionar as principais características dessa patologia com o diagnóstico precoce. Destacando os principais pontos dos artigos relacionados a anemia falciforme e suas complicações, utilizando publicações nacionais e internacionais, das bases de dados: SCIELO (Scientific Electronic Library Online), PubMed, Google Acadêmico e BVS, no qual 21 trabalhos fizeram parte da construção dos resultados. Entre esses, 4 foram achados no PubMed, 9 no Sciello,7 no Google Acadêmico e 1 na plataforma BVS. Respondendo aos objetivos descritos, podemos concluir que o diagnóstico precoce é imprescindível, pois o quanto antes a anemia falciforme for detectada, há mais chances da qualidade e expectativa de vida do paciente aumentar, com isso a triagem neonatal tem um papel fundamental para esta detecção.

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Doença Falciforme E Triagem Neonatal: Um Debate Necessário

Cited by 4 publications

References 13 publications

(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study

(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study

Sickle Cell Anaemia Prevalence among Newborns in the Brazilian Amazon-Savanna Transition Region

A Importância da Triagem Neonatal para a Detecção Precoce da Anemia Falciforme

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