Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia

Detalhes bibliográficos
Autor(a) principal: Wagner,Sandrine C.
Data de Publicação: 2010
Outros Autores: Castro,Simone M. de, Gonzalez,Tatiana P., Santin,Ana P., Filippon,Leticia, Zaleski,Carina F., Azevedo,Laura A., Amorin,Bruna, Callegari-Jacques,Sidia M., Hutz,Mara H.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008
Resumo: Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with -α3.7/αα, -α3.7/α3.7 and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.
id SBG-1_bd30b2b58402befe7427c9ee8e17cd78
oai_identifier_str oai:scielo:S1415-47572010000400008
network_acronym_str SBG-1
network_name_str Genetics and Molecular Biology
repository_id_str
spelling Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemiaalpha-thalassemiaBrazilian populationgenotypehemoglobinmicrocytosisAlpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with -α3.7/αα, -α3.7/α3.7 and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008Genetics and Molecular Biology v.33 n.4 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572010005000086info:eu-repo/semantics/openAccessWagner,Sandrine C.Castro,Simone M. deGonzalez,Tatiana P.Santin,Ana P.Filippon,LeticiaZaleski,Carina F.Azevedo,Laura A.Amorin,BrunaCallegari-Jacques,Sidia M.Hutz,Mara H.eng2011-01-06T00:00:00Zoai:scielo:S1415-47572010000400008Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2011-01-06T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
title Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
spellingShingle Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
Wagner,Sandrine C.
alpha-thalassemia
Brazilian population
genotype
hemoglobin
microcytosis
title_short Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
title_full Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
title_fullStr Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
title_full_unstemmed Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
title_sort Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
author Wagner,Sandrine C.
author_facet Wagner,Sandrine C.
Castro,Simone M. de
Gonzalez,Tatiana P.
Santin,Ana P.
Filippon,Leticia
Zaleski,Carina F.
Azevedo,Laura A.
Amorin,Bruna
Callegari-Jacques,Sidia M.
Hutz,Mara H.
author_role author
author2 Castro,Simone M. de
Gonzalez,Tatiana P.
Santin,Ana P.
Filippon,Leticia
Zaleski,Carina F.
Azevedo,Laura A.
Amorin,Bruna
Callegari-Jacques,Sidia M.
Hutz,Mara H.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Wagner,Sandrine C.
Castro,Simone M. de
Gonzalez,Tatiana P.
Santin,Ana P.
Filippon,Leticia
Zaleski,Carina F.
Azevedo,Laura A.
Amorin,Bruna
Callegari-Jacques,Sidia M.
Hutz,Mara H.
dc.subject.por.fl_str_mv alpha-thalassemia
Brazilian population
genotype
hemoglobin
microcytosis
topic alpha-thalassemia
Brazilian population
genotype
hemoglobin
microcytosis
description Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with -α3.7/αα, -α3.7/α3.7 and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572010005000086
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.33 n.4 2010
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
_version_ 1752122383326511104