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: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/87721 |
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 -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 - 3.7, - 4.2, - 20.5, —SEA and—MED deletions but only the - 3.7 allele was detected. The - 3.7 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 -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 - 3.7/ , - 3.7/- 3.7 and -thalassemia trait compared to healthy subjects. These data suggest that -thalassemia is an important cause of microcytosis and mild anemia in Brazilians. |
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Wagner, Sandrine ComparsiCastro, Simone Martins deGonzalez, Tatiana PereiraSantin, Ana PaulaFilippon, LetíciaZaleski, Carina da FontouraAzevedo, Laura Alencastro deAmorin, BrunaCallegari-Jacques, Sidia MariaHutz, Mara Helena2014-02-26T01:51:30Z20101415-4757http://hdl.handle.net/10183/87721000774659Alpha 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 -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 - 3.7, - 4.2, - 20.5, —SEA and—MED deletions but only the - 3.7 allele was detected. The - 3.7 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 -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 - 3.7/ , - 3.7/- 3.7 and -thalassemia trait compared to healthy subjects. These data suggest that -thalassemia is an important cause of microcytosis and mild anemia in Brazilians.application/pdfengGenetics and molecular biology. Ribeirão Preto, SP. Vol. 13, no. 4 (sept. 2010), p. 641-645Estatística aplicada : MedicinaGenótipoAnemia microcíticaAlpha-thalassemiaBrazilian populationGenotypeHemoglobinMicrocytosisPrevalence of common α-thalassemia determinants in south Brazil : importance for the diagnosis of microcytic anemiaEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000774659.pdf000774659.pdfTexto completo (inglês)application/pdf70102http://www.lume.ufrgs.br/bitstream/10183/87721/1/000774659.pdfa86fa9045019651a6056d02dba12124dMD51TEXT000774659.pdf.txt000774659.pdf.txtExtracted Texttext/plain22805http://www.lume.ufrgs.br/bitstream/10183/87721/2/000774659.pdf.txta8888ef640668963b758c1e860b91473MD52THUMBNAIL000774659.pdf.jpg000774659.pdf.jpgGenerated Thumbnailimage/jpeg1880http://www.lume.ufrgs.br/bitstream/10183/87721/3/000774659.pdf.jpgedfd7d549bb213f6bbbd6a9c18fbae67MD5310183/877212019-08-22 02:32:01.159512oai:www.lume.ufrgs.br:10183/87721Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-08-22T05:32:01Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.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 Comparsi Estatística aplicada : Medicina Genótipo Anemia microcítica 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 Comparsi |
author_facet |
Wagner, Sandrine Comparsi Castro, Simone Martins de Gonzalez, Tatiana Pereira Santin, Ana Paula Filippon, Letícia Zaleski, Carina da Fontoura Azevedo, Laura Alencastro de Amorin, Bruna Callegari-Jacques, Sidia Maria Hutz, Mara Helena |
author_role |
author |
author2 |
Castro, Simone Martins de Gonzalez, Tatiana Pereira Santin, Ana Paula Filippon, Letícia Zaleski, Carina da Fontoura Azevedo, Laura Alencastro de Amorin, Bruna Callegari-Jacques, Sidia Maria Hutz, Mara Helena |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Wagner, Sandrine Comparsi Castro, Simone Martins de Gonzalez, Tatiana Pereira Santin, Ana Paula Filippon, Letícia Zaleski, Carina da Fontoura Azevedo, Laura Alencastro de Amorin, Bruna Callegari-Jacques, Sidia Maria Hutz, Mara Helena |
dc.subject.por.fl_str_mv |
Estatística aplicada : Medicina Genótipo Anemia microcítica |
topic |
Estatística aplicada : Medicina Genótipo Anemia microcítica Alpha-thalassemia Brazilian population Genotype Hemoglobin Microcytosis |
dc.subject.eng.fl_str_mv |
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 -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 - 3.7, - 4.2, - 20.5, —SEA and—MED deletions but only the - 3.7 allele was detected. The - 3.7 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 -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 - 3.7/ , - 3.7/- 3.7 and -thalassemia trait compared to healthy subjects. These data suggest that -thalassemia is an important cause of microcytosis and mild anemia in Brazilians. |
publishDate |
2010 |
dc.date.issued.fl_str_mv |
2010 |
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2014-02-26T01:51:30Z |
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1415-4757 |
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000774659 |
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eng |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto, SP. Vol. 13, no. 4 (sept. 2010), p. 641-645 |
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