AS BASES MOLECULARES DA HEMOFILIA A

Detalhes bibliográficos
Autor(a) principal: Pio, Simone Ferreira
Data de Publicação: 2009
Outros Autores: Oliveira, Guilherme Corrêa de, Rezende, Suely Meireles
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/59838
Resumo: Fundação Oswaldo Cruz. Centro de Pesquisas Rene Rachou. Belo Horizonte, MG, Brasil/Estado de Minas Gerais. Fundação Hospitalar do Estado de Minas Gerais. Belo Horizonte, MG, Brasil
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spelling Pio, Simone FerreiraOliveira, Guilherme Corrêa deRezende, Suely Meireles2023-07-28T19:56:56Z2023-07-28T19:56:56Z2009PIO, Simone Ferreira; OLIVEIRA, Guilherme Corrêa de; MEIRELES Suely. As bases moleculares da hemofilia A. Rev. Assoc. Med. Bras., v. 55, n. 2, p. 213-219, 2009. doi.org/10.1590/S0104-423020090002000290104-4230https://www.arca.fiocruz.br/handle/icict/5983810.1590/S0104-42302009000200029porAssociação Médica BrasileiraAS BASES MOLECULARES DA HEMOFILIA AThe molecular basis of Hemophilia Ainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Centro de Pesquisas Rene Rachou. Belo Horizonte, MG, Brasil/Estado de Minas Gerais. Fundação Hospitalar do Estado de Minas Gerais. Belo Horizonte, MG, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Rene Rachou. Belo Horizonte, MG, BrasilUniversidade Federal de Minas Gerais. Faculdade de Medicina. Clínica Médica. Belo Horizonte, MG, BrasilHemophilias are bleeding disorders due to deficiency of the blood coagulation factor VIII (hemophilia A) or factor IX (hemophilia B), resulting from mutation on the gene coding for factor VIII or factor IX. Hemophilia A is more frequent than hemophilia B and affects 1: 10,000 male newborns. The severity and frequency of hemorrhagic episodes is related to residual activity of factor VIII present in the plasma and relates to the type of mutation associated with the disorder. Cloning of the factor VIII gene has enabled researchers to better understand the molecular basis of hemophilia A, accounting to date, for more than 1,000 mutations associated with the disease. This comprehensive knowledge permits an improved comprehension of the genotype-phenotype relation, establishment of clinical policies when mutations related to higher risk of inhibitors development are known, identification of hemophilia carriers in case of women related to patients, implementation of a program of genetic counseling and discovery of structural-functional relationship between gene-protein. This article aims to review the molecular basis of hemophilia A, laboratory techniques used to characterize mutations and clinical implications involved in the molecular diagnosis of hemophilia AHemophilia AMutationMolecular diagnosisCarrier detectionGenesFactor VIIIinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALuntitled.pdfuntitled.pdfapplication/pdf96191https://www.arca.fiocruz.br/bitstream/icict/59838/2/untitled.pdf164bc03e9a13079743626d52920b5ee4MD52LICENSElicense.txttext/plain1748https://www.arca.fiocruz.br/bitstream/icict/59838/1/license.txt8a4605be74aa9ea9d79846c1fba20a33MD51icict/598382023-07-28 16:56:57.21oai:www.arca.fiocruz.br:icict/59838Tk9URTogUExBQ0UgWU9VUiBPV04gTElDRU5TRSBIRVJFClRoaXMgc2FtcGxlIGxpY2Vuc2UgaXMgcHJvdmlkZWQgZm9yIGluZm9ybWF0aW9uYWwgcHVycG9zZXMgb25seS4KCk5PTi1FWENMVVNJVkUgRElTVFJJQlVUSU9OIExJQ0VOU0UKCkJ5IHNpZ25pbmcgYW5kIHN1Ym1pdHRpbmcgdGhpcyBsaWNlbnNlLCB5b3UgKHRoZSBhdXRob3Iocykgb3IgY29weXJpZ2h0Cm93bmVyKSBncmFudHMgdG8gRFNwYWNlIFVuaXZlcnNpdHkgKERTVSkgdGhlIG5vbi1leGNsdXNpdmUgcmlnaHQgdG8gcmVwcm9kdWNlLAp0cmFuc2xhdGUgKGFzIGRlZmluZWQgYmVsb3cpLCBhbmQvb3IgZGlzdHJpYnV0ZSB5b3VyIHN1Ym1pc3Npb24gKGluY2x1ZGluZwp0aGUgYWJzdHJhY3QpIHdvcmxkd2lkZSBpbiBwcmludCBhbmQgZWxlY3Ryb25pYyBmb3JtYXQgYW5kIGluIGFueSBtZWRpdW0sCmluY2x1ZGluZyBidXQgbm90IGxpbWl0ZWQgdG8gYXVkaW8gb3IgdmlkZW8uCgpZb3UgYWdyZWUgdGhhdCBEU1UgbWF5LCB3aXRob3V0IGNoYW5naW5nIHRoZSBjb250ZW50LCB0cmFuc2xhdGUgdGhlCnN1Ym1pc3Npb24gdG8gYW55IG1lZGl1bSBvciBmb3JtYXQgZm9yIHRoZSBwdXJwb3NlIG9mIHByZXNlcnZhdGlvbi4KCllvdSBhbHNvIGFncmVlIHRoYXQgRFNVIG1heSBrZWVwIG1vcmUgdGhhbiBvbmUgY29weSBvZiB0aGlzIHN1Ym1pc3Npb24gZm9yCnB1cnBvc2VzIG9mIHNlY3VyaXR5LCBiYWNrLXVwIGFuZCBwcmVzZXJ2YXRpb24uCgpZb3UgcmVwcmVzZW50IHRoYXQgdGhlIHN1Ym1pc3Npb24gaXMgeW91ciBvcmlnaW5hbCB3b3JrLCBhbmQgdGhhdCB5b3UgaGF2ZQp0aGUgcmlnaHQgdG8gZ3JhbnQgdGhlIHJpZ2h0cyBjb250YWluZWQgaW4gdGhpcyBsaWNlbnNlLiBZb3UgYWxzbyByZXByZXNlbnQKdGhhdCB5b3VyIHN1Ym1pc3Npb24gZG9lcyBub3QsIHRvIHRoZSBiZXN0IG9mIHlvdXIga25vd2xlZGdlLCBpbmZyaW5nZSB1cG9uCmFueW9uZSdzIGNvcHlyaWdodC4KCklmIHRoZSBzdWJtaXNzaW9uIGNvbnRhaW5zIG1hdGVyaWFsIGZvciB3aGljaCB5b3UgZG8gbm90IGhvbGQgY29weXJpZ2h0LAp5b3UgcmVwcmVzZW50IHRoYXQgeW91IGhhdmUgb2J0YWluZWQgdGhlIHVucmVzdHJpY3RlZCBwZXJtaXNzaW9uIG9mIHRoZQpjb3B5cmlnaHQgb3duZXIgdG8gZ3JhbnQgRFNVIHRoZSByaWdodHMgcmVxdWlyZWQgYnkgdGhpcyBsaWNlbnNlLCBhbmQgdGhhdApzdWNoIHRoaXJkLXBhcnR5IG93bmVkIG1hdGVyaWFsIGlzIGNsZWFybHkgaWRlbnRpZmllZCBhbmQgYWNrbm93bGVkZ2VkCndpdGhpbiB0aGUgdGV4dCBvciBjb250ZW50IG9mIHRoZSBzdWJtaXNzaW9uLgoKSUYgVEhFIFNVQk1JU1NJT04gSVMgQkFTRUQgVVBPTiBXT1JLIFRIQVQgSEFTIEJFRU4gU1BPTlNPUkVEIE9SIFNVUFBPUlRFRApCWSBBTiBBR0VOQ1kgT1IgT1JHQU5JWkFUSU9OIE9USEVSIFRIQU4gRFNVLCBZT1UgUkVQUkVTRU5UIFRIQVQgWU9VIEhBVkUKRlVMRklMTEVEIEFOWSBSSUdIVCBPRiBSRVZJRVcgT1IgT1RIRVIgT0JMSUdBVElPTlMgUkVRVUlSRUQgQlkgU1VDSApDT05UUkFDVCBPUiBBR1JFRU1FTlQuCgpEU1Ugd2lsbCBjbGVhcmx5IGlkZW50aWZ5IHlvdXIgbmFtZShzKSBhcyB0aGUgYXV0aG9yKHMpIG9yIG93bmVyKHMpIG9mIHRoZQpzdWJtaXNzaW9uLCBhbmQgd2lsbCBub3QgbWFrZSBhbnkgYWx0ZXJhdGlvbiwgb3RoZXIgdGhhbiBhcyBhbGxvd2VkIGJ5IHRoaXMKbGljZW5zZSwgdG8geW91ciBzdWJtaXNzaW9uLgo=Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-07-28T19:56:57Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.en_US.fl_str_mv AS BASES MOLECULARES DA HEMOFILIA A
dc.title.alternative.en_US.fl_str_mv The molecular basis of Hemophilia A
title AS BASES MOLECULARES DA HEMOFILIA A
spellingShingle AS BASES MOLECULARES DA HEMOFILIA A
Pio, Simone Ferreira
Hemophilia A
Mutation
Molecular diagnosis
Carrier detection
Genes
Factor VIII
title_short AS BASES MOLECULARES DA HEMOFILIA A
title_full AS BASES MOLECULARES DA HEMOFILIA A
title_fullStr AS BASES MOLECULARES DA HEMOFILIA A
title_full_unstemmed AS BASES MOLECULARES DA HEMOFILIA A
title_sort AS BASES MOLECULARES DA HEMOFILIA A
author Pio, Simone Ferreira
author_facet Pio, Simone Ferreira
Oliveira, Guilherme Corrêa de
Rezende, Suely Meireles
author_role author
author2 Oliveira, Guilherme Corrêa de
Rezende, Suely Meireles
author2_role author
author
dc.contributor.author.fl_str_mv Pio, Simone Ferreira
Oliveira, Guilherme Corrêa de
Rezende, Suely Meireles
dc.subject.en.en_US.fl_str_mv Hemophilia A
Mutation
Molecular diagnosis
Carrier detection
Genes
Factor VIII
topic Hemophilia A
Mutation
Molecular diagnosis
Carrier detection
Genes
Factor VIII
description Fundação Oswaldo Cruz. Centro de Pesquisas Rene Rachou. Belo Horizonte, MG, Brasil/Estado de Minas Gerais. Fundação Hospitalar do Estado de Minas Gerais. Belo Horizonte, MG, Brasil
publishDate 2009
dc.date.issued.fl_str_mv 2009
dc.date.accessioned.fl_str_mv 2023-07-28T19:56:56Z
dc.date.available.fl_str_mv 2023-07-28T19:56:56Z
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 PIO, Simone Ferreira; OLIVEIRA, Guilherme Corrêa de; MEIRELES Suely. As bases moleculares da hemofilia A. Rev. Assoc. Med. Bras., v. 55, n. 2, p. 213-219, 2009. doi.org/10.1590/S0104-42302009000200029
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/59838
dc.identifier.issn.en_US.fl_str_mv 0104-4230
dc.identifier.doi.none.fl_str_mv 10.1590/S0104-42302009000200029
identifier_str_mv PIO, Simone Ferreira; OLIVEIRA, Guilherme Corrêa de; MEIRELES Suely. As bases moleculares da hemofilia A. Rev. Assoc. Med. Bras., v. 55, n. 2, p. 213-219, 2009. doi.org/10.1590/S0104-42302009000200029
0104-4230
10.1590/S0104-42302009000200029
url https://www.arca.fiocruz.br/handle/icict/59838
dc.language.iso.fl_str_mv por
language por
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Associação Médica Brasileira
publisher.none.fl_str_mv Associação Médica Brasileira
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
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institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/59838/2/untitled.pdf
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repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
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