Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil

Detalhes bibliográficos
Autor(a) principal: Corrêa,Maria Cristina S. M.
Data de Publicação: 2019
Outros Autores: Ferreira,Euripides, Veiga,Marcelo T. A., Bandinelli,Eliane, Rosset,Clévia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442019000600598
Resumo: ABSTRACT Objectives: The development of antibodies (inhibitors) against exogenous factors is the main complication in the treatment of hemophilia. Both genetic and non-genetic factors are related to inhibitor development. Among the genetic factors, the type of mutation that caused the disease is one of the most important. The objectives of the present study were to establish the prevalence of inversions in introns 1 and 22 of the factor VIII gene in patients with severe hemophilia A, correlating these with inhibitor development, and to compare the results with data from the literature. Method: Unrelated severe hemophilia A patients were analyzed for the presence of inversions in intron 1 (n = 77) and intron 22 (n = 39) by polymerase chain reaction (PCR). Detection of the inhibitor was performed by the mixing test and its quantification was performed by the Bethesda method. Results: The prevalence of inversions in introns 1 and 22 was 2.6% and 41%, respectively. No patient with inversions in intron 1 had inhibitors, whereas 26.3% of patients with inversions in intron 22 developed inhibitors. Conclusion: Due to the small number of patients with inversions in intron 1, it was not possible to perform a statistical test for the correlation with risk of inhibitor development. Inversions in intron 22 of the factor VIII gene were not associated with an increased risk of inhibitor development in the analyzed samples (p = 1).
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spelling Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazilhemophilia Ablood coagulation factor inhibitorsfactor VIIImutationmolecular biologyABSTRACT Objectives: The development of antibodies (inhibitors) against exogenous factors is the main complication in the treatment of hemophilia. Both genetic and non-genetic factors are related to inhibitor development. Among the genetic factors, the type of mutation that caused the disease is one of the most important. The objectives of the present study were to establish the prevalence of inversions in introns 1 and 22 of the factor VIII gene in patients with severe hemophilia A, correlating these with inhibitor development, and to compare the results with data from the literature. Method: Unrelated severe hemophilia A patients were analyzed for the presence of inversions in intron 1 (n = 77) and intron 22 (n = 39) by polymerase chain reaction (PCR). Detection of the inhibitor was performed by the mixing test and its quantification was performed by the Bethesda method. Results: The prevalence of inversions in introns 1 and 22 was 2.6% and 41%, respectively. No patient with inversions in intron 1 had inhibitors, whereas 26.3% of patients with inversions in intron 22 developed inhibitors. Conclusion: Due to the small number of patients with inversions in intron 1, it was not possible to perform a statistical test for the correlation with risk of inhibitor development. Inversions in intron 22 of the factor VIII gene were not associated with an increased risk of inhibitor development in the analyzed samples (p = 1).Sociedade Brasileira de Patologia Clínica2019-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442019000600598Jornal Brasileiro de Patologia e Medicina Laboratorial v.55 n.6 2019reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)instname:Sociedade Brasileira de Patologia (SBP)instacron:SBP10.5935/1676-2444.20190053info:eu-repo/semantics/openAccessCorrêa,Maria Cristina S. M.Ferreira,EuripidesVeiga,Marcelo T. A.Bandinelli,ElianeRosset,Cléviaeng2020-03-09T00:00:00Zoai:scielo:S1676-24442019000600598Revistahttp://www.scielo.br/jbpmlhttps://old.scielo.br/oai/scielo-oai.php||jbpml@sbpc.org.br1678-47741676-2444opendoar:2020-03-09T00:00Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)false
dc.title.none.fl_str_mv Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
title Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
spellingShingle Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
Corrêa,Maria Cristina S. M.
hemophilia A
blood coagulation factor inhibitors
factor VIII
mutation
molecular biology
title_short Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
title_full Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
title_fullStr Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
title_full_unstemmed Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
title_sort Prevalence of inversions in introns 1 and 22 of the factor VIII gene and inhibitors in patients from southern Brazil
author Corrêa,Maria Cristina S. M.
author_facet Corrêa,Maria Cristina S. M.
Ferreira,Euripides
Veiga,Marcelo T. A.
Bandinelli,Eliane
Rosset,Clévia
author_role author
author2 Ferreira,Euripides
Veiga,Marcelo T. A.
Bandinelli,Eliane
Rosset,Clévia
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Corrêa,Maria Cristina S. M.
Ferreira,Euripides
Veiga,Marcelo T. A.
Bandinelli,Eliane
Rosset,Clévia
dc.subject.por.fl_str_mv hemophilia A
blood coagulation factor inhibitors
factor VIII
mutation
molecular biology
topic hemophilia A
blood coagulation factor inhibitors
factor VIII
mutation
molecular biology
description ABSTRACT Objectives: The development of antibodies (inhibitors) against exogenous factors is the main complication in the treatment of hemophilia. Both genetic and non-genetic factors are related to inhibitor development. Among the genetic factors, the type of mutation that caused the disease is one of the most important. The objectives of the present study were to establish the prevalence of inversions in introns 1 and 22 of the factor VIII gene in patients with severe hemophilia A, correlating these with inhibitor development, and to compare the results with data from the literature. Method: Unrelated severe hemophilia A patients were analyzed for the presence of inversions in intron 1 (n = 77) and intron 22 (n = 39) by polymerase chain reaction (PCR). Detection of the inhibitor was performed by the mixing test and its quantification was performed by the Bethesda method. Results: The prevalence of inversions in introns 1 and 22 was 2.6% and 41%, respectively. No patient with inversions in intron 1 had inhibitors, whereas 26.3% of patients with inversions in intron 22 developed inhibitors. Conclusion: Due to the small number of patients with inversions in intron 1, it was not possible to perform a statistical test for the correlation with risk of inhibitor development. Inversions in intron 22 of the factor VIII gene were not associated with an increased risk of inhibitor development in the analyzed samples (p = 1).
publishDate 2019
dc.date.none.fl_str_mv 2019-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442019000600598
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/1676-2444.20190053
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dc.publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
dc.source.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial v.55 n.6 2019
reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
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