Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Detalhes bibliográficos
Autor(a) principal: Adorno, Elisângela Vitória
Data de Publicação: 2005
Outros Autores: Couto, Fábio David, Moura Neto, José Pereira de, Menezes, Joelma Figueiredo, Rêgo, Marco, Reis, Mitermayer Galvão dos, Gonçalves, Marilda Souza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Cadernos de Saúde Pública
Texto Completo: https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571
Resumo: Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.
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spelling Hemoglobinopathies in newborns from Salvador, Bahia, Northeast BrazilHemoglobinopathiesSickle Cell AnemiaThalassemiaNewborn InfantHemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.Hemoglobinopatias são alterações hereditárias na molécula de hemoglobina com prevalência mundial elevada. O Brasil apresenta prevalência de 0,1 a 0,3% para recém-nascidos com anemia falciforme e freqüência de 20,0 a 25,0% para a ocorrência de heterozigotos da talassemia alfa2 entre indivíduos afro-descendentes. O presente estudo investigou a presença de hemoglobinas variantes e talassemia alfa2(3.7Kb) e alfa2(4.2Kb) em recém-nascidos de Salvador, Bahia, Brasil. Analisamos o sangue do cordão umbilical de 590 recém-nascidos, sendo 57 (9,8%) com padrão FAS; 36 (6,5%) FAC; um (0,2%) SF e cinco (0,9%) FSC. Cento e catorze (22,2%) apresentaram talassemia alfa2(3.7Kb), dos quais 101 (19,7%) foram heterozigotos e 13 (2,5%) homozigotos, mostrando significância estatística para os dados hematológicos entre recém-nascidos com genes alfa normais e portadores de talassemia alfa2(3.7Kb). A talassemia alfa2(4.2Kb) não foi encontrada. As freqüências descritas neste trabalho confirmam que as hemoglobinopatias são um problema de Saúde Pública no Brasil, enfatizando a importância dos programas de triagem neonatal e aconselhamento genético.Reports in Public HealthCadernos de Saúde Pública2005-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlapplication/pdfhttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571Reports in Public Health; Vol. 21 No. 1 (2005): January/FebruaryCadernos de Saúde Pública; v. 21 n. 1 (2005): Janeiro/Fevereiro1678-44640102-311Xreponame:Cadernos de Saúde Públicainstname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZenghttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571/5158https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571/5159Adorno, Elisângela VitóriaCouto, Fábio DavidMoura Neto, José Pereira deMenezes, Joelma FigueiredoRêgo, MarcoReis, Mitermayer Galvão dosGonçalves, Marilda Souzainfo:eu-repo/semantics/openAccess2024-03-06T15:27:06Zoai:ojs.teste-cadernos.ensp.fiocruz.br:article/2571Revistahttps://cadernos.ensp.fiocruz.br/ojs/index.php/csphttps://cadernos.ensp.fiocruz.br/ojs/index.php/csp/oaicadernos@ensp.fiocruz.br||cadernos@ensp.fiocruz.br1678-44640102-311Xopendoar:2024-03-06T13:03:00.327719Cadernos de Saúde Pública - Fundação Oswaldo Cruz (FIOCRUZ)true
dc.title.none.fl_str_mv Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
title Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
spellingShingle Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
Adorno, Elisângela Vitória
Hemoglobinopathies
Sickle Cell Anemia
Thalassemia
Newborn Infant
title_short Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
title_full Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
title_fullStr Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
title_full_unstemmed Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
title_sort Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
author Adorno, Elisângela Vitória
author_facet Adorno, Elisângela Vitória
Couto, Fábio David
Moura Neto, José Pereira de
Menezes, Joelma Figueiredo
Rêgo, Marco
Reis, Mitermayer Galvão dos
Gonçalves, Marilda Souza
author_role author
author2 Couto, Fábio David
Moura Neto, José Pereira de
Menezes, Joelma Figueiredo
Rêgo, Marco
Reis, Mitermayer Galvão dos
Gonçalves, Marilda Souza
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Adorno, Elisângela Vitória
Couto, Fábio David
Moura Neto, José Pereira de
Menezes, Joelma Figueiredo
Rêgo, Marco
Reis, Mitermayer Galvão dos
Gonçalves, Marilda Souza
dc.subject.por.fl_str_mv Hemoglobinopathies
Sickle Cell Anemia
Thalassemia
Newborn Infant
topic Hemoglobinopathies
Sickle Cell Anemia
Thalassemia
Newborn Infant
description Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.
publishDate 2005
dc.date.none.fl_str_mv 2005-02-01
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dc.identifier.uri.fl_str_mv https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571
url https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571/5158
https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2571/5159
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dc.publisher.none.fl_str_mv Reports in Public Health
Cadernos de Saúde Pública
publisher.none.fl_str_mv Reports in Public Health
Cadernos de Saúde Pública
dc.source.none.fl_str_mv Reports in Public Health; Vol. 21 No. 1 (2005): January/February
Cadernos de Saúde Pública; v. 21 n. 1 (2005): Janeiro/Fevereiro
1678-4464
0102-311X
reponame:Cadernos de Saúde Pública
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
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institution FIOCRUZ
reponame_str Cadernos de Saúde Pública
collection Cadernos de Saúde Pública
repository.name.fl_str_mv Cadernos de Saúde Pública - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv cadernos@ensp.fiocruz.br||cadernos@ensp.fiocruz.br
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