Genetic markers associated with complications of hemophilia: A scoping review

Detalhes bibliográficos
Autor(a) principal: Faria, Gustavo Henrique Lima de Faria
Data de Publicação: 2022
Tipo de documento: Trabalho de conclusão de curso
Idioma: eng
Título da fonte: Repositório Institucional da UFJF
Texto Completo: https://repositorio.ufjf.br/jspui/handle/ufjf/14305
Resumo: -
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spelling Ribeiro, Raquel Tognonhttp://lattes.cnpq.br/9001547181522263Bonomo, Larissa de Freitashttp://lattes.cnpq.br/7165040970220720Silva, Pâmela Souza Almeidattp://lattes.cnpq.br/7072160577442095http://lattes.cnpq.br/2202510662266893Faria, Gustavo Henrique Lima de Faria2022-08-04T11:32:23Z2022-08-032022-08-04T11:32:23Z2022-07-29https://repositorio.ufjf.br/jspui/handle/ufjf/14305-Introduction: Complications of hemophilia, such as hemophilic arthropathies and the development of inhibitors against coagulation factor, have a great impact on the quality of life of the patients. The study of factors associated with these complications may contribute to their prevention. Objective: This study conducts a scoping review that seeks to identify and discuss genetic polymorphisms associated with complications of hemophilia A and hemophilia B. Methods: The methodology was conducted according to PRISMA Extension for Scoping Reviews (PRISMA-ScR) and PubMed was used as database to identify original articles published between 2011 and 2021, which associated genetic polymorphisms with complications of hemophilia. Results: 23 articles were selected, of which 22 of them identified polymorphisms associated with higher or lower risk of developing inhibitors in 24 genes and in one article identified polymorphisms associated with the higher risk of developing hemophilic arthropathy in 18 genes. In both cases, the genes involved were mostly associated with modulation of the immune and inflammatory response. Conclusion: Many polymorphisms in genes of coagulation factors and genes related to the immune and inflammatory response have been associated with the risk of developing inhibitors and hemophilic arthropathies and are possible molecular markers for treatment-related complications. However, there are few studies regarding the association of genetic polymorphisms and musculoskeletal complications.engUniversidade Federal de Juiz de Fora - Campus Avançado de Governador ValadaresUFJF/GVBrasilICV - Instituto de Ciências da VidaAttribution-NonCommercial-NoDerivs 3.0 Brazilhttp://creativecommons.org/licenses/by-nc-nd/3.0/br/info:eu-repo/semantics/embargoedAccessCNPQ::CIENCIAS DA SAUDE::FARMACIAHemophilia AHemophilia BPolymorphism, geneticBlood coagulation factors inhibitorsJoint DiseasesGenetic markers associated with complications of hemophilia: A scoping reviewinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/bachelorThesisreponame:Repositório Institucional da UFJFinstname:Universidade Federal de Juiz de Fora (UFJF)instacron:UFJFCC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8811https://repositorio.ufjf.br/jspui/bitstream/ufjf/14305/1/license_rdfe39d27027a6cc9cb039ad269a5db8e34MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://repositorio.ufjf.br/jspui/bitstream/ufjf/14305/2/license.txt8a4605be74aa9ea9d79846c1fba20a33MD52ufjf/143052022-08-04 08:32:24.069oai:hermes.cpd.ufjf.br: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Repositório InstitucionalPUBhttps://repositorio.ufjf.br/oai/requestopendoar:2022-08-04T11:32:24Repositório Institucional da UFJF - Universidade Federal de Juiz de Fora (UFJF)false
dc.title.pt_BR.fl_str_mv Genetic markers associated with complications of hemophilia: A scoping review
title Genetic markers associated with complications of hemophilia: A scoping review
spellingShingle Genetic markers associated with complications of hemophilia: A scoping review
Faria, Gustavo Henrique Lima de Faria
CNPQ::CIENCIAS DA SAUDE::FARMACIA
Hemophilia A
Hemophilia B
Polymorphism, genetic
Blood coagulation factors inhibitors
Joint Diseases
title_short Genetic markers associated with complications of hemophilia: A scoping review
title_full Genetic markers associated with complications of hemophilia: A scoping review
title_fullStr Genetic markers associated with complications of hemophilia: A scoping review
title_full_unstemmed Genetic markers associated with complications of hemophilia: A scoping review
title_sort Genetic markers associated with complications of hemophilia: A scoping review
author Faria, Gustavo Henrique Lima de Faria
author_facet Faria, Gustavo Henrique Lima de Faria
author_role author
dc.contributor.advisor1.fl_str_mv Ribeiro, Raquel Tognon
dc.contributor.advisor1Lattes.fl_str_mv http://lattes.cnpq.br/9001547181522263
dc.contributor.referee1.fl_str_mv Bonomo, Larissa de Freitas
dc.contributor.referee1Lattes.fl_str_mv http://lattes.cnpq.br/7165040970220720
dc.contributor.referee2.fl_str_mv Silva, Pâmela Souza Almeida
dc.contributor.referee2Lattes.fl_str_mv ttp://lattes.cnpq.br/7072160577442095
dc.contributor.authorLattes.fl_str_mv http://lattes.cnpq.br/2202510662266893
dc.contributor.author.fl_str_mv Faria, Gustavo Henrique Lima de Faria
contributor_str_mv Ribeiro, Raquel Tognon
Bonomo, Larissa de Freitas
Silva, Pâmela Souza Almeida
dc.subject.cnpq.fl_str_mv CNPQ::CIENCIAS DA SAUDE::FARMACIA
topic CNPQ::CIENCIAS DA SAUDE::FARMACIA
Hemophilia A
Hemophilia B
Polymorphism, genetic
Blood coagulation factors inhibitors
Joint Diseases
dc.subject.por.fl_str_mv Hemophilia A
Hemophilia B
Polymorphism, genetic
Blood coagulation factors inhibitors
Joint Diseases
description -
publishDate 2022
dc.date.accessioned.fl_str_mv 2022-08-04T11:32:23Z
dc.date.available.fl_str_mv 2022-08-03
2022-08-04T11:32:23Z
dc.date.issued.fl_str_mv 2022-07-29
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/bachelorThesis
format bachelorThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://repositorio.ufjf.br/jspui/handle/ufjf/14305
url https://repositorio.ufjf.br/jspui/handle/ufjf/14305
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv Attribution-NonCommercial-NoDerivs 3.0 Brazil
http://creativecommons.org/licenses/by-nc-nd/3.0/br/
info:eu-repo/semantics/embargoedAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivs 3.0 Brazil
http://creativecommons.org/licenses/by-nc-nd/3.0/br/
eu_rights_str_mv embargoedAccess
dc.publisher.none.fl_str_mv Universidade Federal de Juiz de Fora - Campus Avançado de Governador Valadares
dc.publisher.initials.fl_str_mv UFJF/GV
dc.publisher.country.fl_str_mv Brasil
dc.publisher.department.fl_str_mv ICV - Instituto de Ciências da Vida
publisher.none.fl_str_mv Universidade Federal de Juiz de Fora - Campus Avançado de Governador Valadares
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFJF
instname:Universidade Federal de Juiz de Fora (UFJF)
instacron:UFJF
instname_str Universidade Federal de Juiz de Fora (UFJF)
instacron_str UFJF
institution UFJF
reponame_str Repositório Institucional da UFJF
collection Repositório Institucional da UFJF
bitstream.url.fl_str_mv https://repositorio.ufjf.br/jspui/bitstream/ufjf/14305/1/license_rdf
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