Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , , , |
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. |
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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 |
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1752122383326511104 |