Dificuldades no diagnóstico laboratorial das hemoglobinopatias

Detalhes bibliográficos
Autor(a) principal: Naoum, Paulo Cesar [UNESP]
Data de Publicação: 2007
Outros Autores: Bonini-Domingos, Claudia R. [UNESP]
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://hdl.handle.net/11449/225029
Resumo: There are various types of hemoglobinopathies that are characterized by variants of abnormal hemoglobins (eg. Hb S, HbC, unstables Hb, etc.) and thalassemias (eg. alpha, beta, beta/delta, etc.). Hemoglobinopathies account for some of the most common single gene disorders worldwide with at least 5% of the world's population having one or more serious genetic abnormalities. Because of the clinical and genetic heterogenity of these disorders, a laboratory investigation is fundamental to establish the diagnosis of the different variants of the abnormal hemoglobinopathies and thalassemias. This article reports on the laboratory diagnostic difficulties caused by molecular complexity of these abnormalities.
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spelling Dificuldades no diagnóstico laboratorial das hemoglobinopatiasDificulties on the laboratorial diagnosis of hemoglobinopathiesHemoglobinopathiesSickle cell diseaseThalassemiasThere are various types of hemoglobinopathies that are characterized by variants of abnormal hemoglobins (eg. Hb S, HbC, unstables Hb, etc.) and thalassemias (eg. alpha, beta, beta/delta, etc.). Hemoglobinopathies account for some of the most common single gene disorders worldwide with at least 5% of the world's population having one or more serious genetic abnormalities. Because of the clinical and genetic heterogenity of these disorders, a laboratory investigation is fundamental to establish the diagnosis of the different variants of the abnormal hemoglobinopathies and thalassemias. This article reports on the laboratory diagnostic difficulties caused by molecular complexity of these abnormalities.Unesp Academia de Ciência e Tecnologia de São José do Rio Preto, SPUnesp Departamento de Biologia Unesp de São José do Rio Preto, SPAcademia de Ciência e Tecnologia, Rua Bonfá Natale, 1.860, 15020-130 - São José do Rio Preto-SPUnesp Academia de Ciência e Tecnologia de São José do Rio Preto, SPUnesp Departamento de Biologia Unesp de São José do Rio Preto, SPUniversidade Estadual Paulista (UNESP)Academia de Ciência e TecnologiaNaoum, Paulo Cesar [UNESP]Bonini-Domingos, Claudia R. [UNESP]2022-04-28T20:36:21Z2022-04-28T20:36:21Z2007-07-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article226-228Revista Brasileira de Hematologia e Hemoterapia, v. 29, n. 3, p. 226-228, 2007.1516-8484http://hdl.handle.net/11449/2250292-s2.0-38049110880Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporRevista Brasileira de Hematologia e Hemoterapiainfo:eu-repo/semantics/openAccess2022-04-28T20:36:21Zoai:repositorio.unesp.br:11449/225029Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T21:22:32.761387Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Dificuldades no diagnóstico laboratorial das hemoglobinopatias
Dificulties on the laboratorial diagnosis of hemoglobinopathies
title Dificuldades no diagnóstico laboratorial das hemoglobinopatias
spellingShingle Dificuldades no diagnóstico laboratorial das hemoglobinopatias
Naoum, Paulo Cesar [UNESP]
Hemoglobinopathies
Sickle cell disease
Thalassemias
title_short Dificuldades no diagnóstico laboratorial das hemoglobinopatias
title_full Dificuldades no diagnóstico laboratorial das hemoglobinopatias
title_fullStr Dificuldades no diagnóstico laboratorial das hemoglobinopatias
title_full_unstemmed Dificuldades no diagnóstico laboratorial das hemoglobinopatias
title_sort Dificuldades no diagnóstico laboratorial das hemoglobinopatias
author Naoum, Paulo Cesar [UNESP]
author_facet Naoum, Paulo Cesar [UNESP]
Bonini-Domingos, Claudia R. [UNESP]
author_role author
author2 Bonini-Domingos, Claudia R. [UNESP]
author2_role author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (UNESP)
Academia de Ciência e Tecnologia
dc.contributor.author.fl_str_mv Naoum, Paulo Cesar [UNESP]
Bonini-Domingos, Claudia R. [UNESP]
dc.subject.por.fl_str_mv Hemoglobinopathies
Sickle cell disease
Thalassemias
topic Hemoglobinopathies
Sickle cell disease
Thalassemias
description There are various types of hemoglobinopathies that are characterized by variants of abnormal hemoglobins (eg. Hb S, HbC, unstables Hb, etc.) and thalassemias (eg. alpha, beta, beta/delta, etc.). Hemoglobinopathies account for some of the most common single gene disorders worldwide with at least 5% of the world's population having one or more serious genetic abnormalities. Because of the clinical and genetic heterogenity of these disorders, a laboratory investigation is fundamental to establish the diagnosis of the different variants of the abnormal hemoglobinopathies and thalassemias. This article reports on the laboratory diagnostic difficulties caused by molecular complexity of these abnormalities.
publishDate 2007
dc.date.none.fl_str_mv 2007-07-01
2022-04-28T20:36:21Z
2022-04-28T20:36:21Z
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.uri.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia, v. 29, n. 3, p. 226-228, 2007.
1516-8484
http://hdl.handle.net/11449/225029
2-s2.0-38049110880
identifier_str_mv Revista Brasileira de Hematologia e Hemoterapia, v. 29, n. 3, p. 226-228, 2007.
1516-8484
2-s2.0-38049110880
url http://hdl.handle.net/11449/225029
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 226-228
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1808129314363801600

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