Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
Texto Completo: | https://www.arca.fiocruz.br/handle/icict/4176 |
Resumo: | Alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal alpha genes and those with alpha-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal alpha genes and alpha-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal alpha genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the alpha-Thal23.7kb genotype. The AC alpha-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns. |
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Couto, Fábio DavidAlbuquerque, Alessandra B. LimaAdorno, Elisângela VitóriaAbbehusen, L. de FreitasOliveira, J. L. B. deReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2012-07-17T21:13:06Z2012-07-17T21:13:06Z2003COUTO, Fábio David et al. Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. Clinical and Laboratory Haematology, v. 25, n. 1, p. 29-34, Feb. 2003.0141-9854https://www.arca.fiocruz.br/handle/icict/4176Alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal alpha genes and those with alpha-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal alpha genes and alpha-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal alpha genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the alpha-Thal23.7kb genotype. The AC alpha-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Maternidade Pública Tsylla Balbino. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Universidade Federal da Bahia. Salvador, BA, Brasil.engAlpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysisinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article2003SalvadorHemoglobinopathiesHemoglobin CPregnancyThalassemiaHematologic parametersDeleção de SequênciaTalassemia alfa/genéticaEstudos de Casos e ControlesGrupos de Populações ContinentaisFemininoTestes GenéticosTestes HematológicosHemoglobina AHemoglobina CHeterozigotoHumanosGravidezTalassemia alfa/diagnósticoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALCouto FD a-thalassemia 2,3.7 kb deletion....pdfCouto FD a-thalassemia 2,3.7 kb deletion....pdfapplication/pdf180756https://www.arca.fiocruz.br/bitstream/icict/4176/1/Couto%20FD%20a-thalassemia%202%2c3.7%20kb%20deletion....pdf6cc9ee5e35c50e2b235bb71f10a968d5MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81990https://www.arca.fiocruz.br/bitstream/icict/4176/2/license.txtb6ead4607e393dee1190c21ba08397beMD52TEXTCouto FD a-thalassemia 2,3.7 kb deletion....pdf.txtCouto FD a-thalassemia 2,3.7 kb deletion....pdf.txtExtracted texttext/plain24265https://www.arca.fiocruz.br/bitstream/icict/4176/5/Couto%20FD%20a-thalassemia%202%2c3.7%20kb%20deletion....pdf.txtaf4ef8a821756bce2d6a95c7c590eae0MD55THUMBNAILCouto FD a-thalassemia 2,3.7 kb deletion....pdf.jpgCouto FD a-thalassemia 2,3.7 kb deletion....pdf.jpgGenerated Thumbnailimage/jpeg2032https://www.arca.fiocruz.br/bitstream/icict/4176/4/Couto%20FD%20a-thalassemia%202%2c3.7%20kb%20deletion....pdf.jpg33e1fdd47667855b99e6730bb5c9ef79MD54icict/41762023-03-15 14:33:27.392oai:www.arca.fiocruz.br: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Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:33:27Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
dc.title.pt_BR.fl_str_mv |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
title |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
spellingShingle |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis Couto, Fábio David Hemoglobinopathies Hemoglobin C Pregnancy Thalassemia Hematologic parameters Deleção de Sequência Talassemia alfa/genética Estudos de Casos e Controles Grupos de Populações Continentais Feminino Testes Genéticos Testes Hematológicos Hemoglobina A Hemoglobina C Heterozigoto Humanos Gravidez Talassemia alfa/diagnóstico |
title_short |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
title_full |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
title_fullStr |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
title_full_unstemmed |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
title_sort |
Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis |
author |
Couto, Fábio David |
author_facet |
Couto, Fábio David Albuquerque, Alessandra B. Lima Adorno, Elisângela Vitória Abbehusen, L. de Freitas Oliveira, J. L. B. de Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
author_role |
author |
author2 |
Albuquerque, Alessandra B. Lima Adorno, Elisângela Vitória Abbehusen, L. de Freitas Oliveira, J. L. B. de Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Couto, Fábio David Albuquerque, Alessandra B. Lima Adorno, Elisângela Vitória Abbehusen, L. de Freitas Oliveira, J. L. B. de Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
dc.subject.en.pt_BR.fl_str_mv |
Hemoglobinopathies Hemoglobin C Pregnancy Thalassemia Hematologic parameters |
topic |
Hemoglobinopathies Hemoglobin C Pregnancy Thalassemia Hematologic parameters Deleção de Sequência Talassemia alfa/genética Estudos de Casos e Controles Grupos de Populações Continentais Feminino Testes Genéticos Testes Hematológicos Hemoglobina A Hemoglobina C Heterozigoto Humanos Gravidez Talassemia alfa/diagnóstico |
dc.subject.decs.pt_BR.fl_str_mv |
Deleção de Sequência Talassemia alfa/genética Estudos de Casos e Controles Grupos de Populações Continentais Feminino Testes Genéticos Testes Hematológicos Hemoglobina A Hemoglobina C Heterozigoto Humanos Gravidez Talassemia alfa/diagnóstico |
description |
Alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal alpha genes and those with alpha-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal alpha genes and alpha-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal alpha genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the alpha-Thal23.7kb genotype. The AC alpha-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns. |
publishDate |
2003 |
dc.date.issued.fl_str_mv |
2003 |
dc.date.accessioned.fl_str_mv |
2012-07-17T21:13:06Z |
dc.date.available.fl_str_mv |
2012-07-17T21:13:06Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
COUTO, Fábio David et al. Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. Clinical and Laboratory Haematology, v. 25, n. 1, p. 29-34, Feb. 2003. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/4176 |
dc.identifier.issn.none.fl_str_mv |
0141-9854 |
identifier_str_mv |
COUTO, Fábio David et al. Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis. Clinical and Laboratory Haematology, v. 25, n. 1, p. 29-34, Feb. 2003. 0141-9854 |
url |
https://www.arca.fiocruz.br/handle/icict/4176 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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Repositório Institucional da FIOCRUZ (ARCA) |
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