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Detalhes bibliográficos
Autor(a) principal: Motta, Eliete
Data de Publicação: 1988
Outros Autores: Ferrari, Nadir
Tipo de documento: Artigo
Idioma: por
Título da fonte: Biotemas (Online)
Texto Completo: https://periodicos.ufsc.br/index.php/biotemas/article/view/23179
Resumo: The aim of the present paper was to review the literature on hemophilia A, to diagnose hemophiliacs through FVIII:C and FVIII:RAg assays, to study their families and to detect heterozygotes for the condition. Twenty four persons were testes, from 6 families: 9 hemophiliacs A, 8 probable carriers and 7 definite carriers. Twenty five healthy women were also testes, with mean levels of FVIII:C and FVIII:RAg of 97+/-26% respectively. The mean levels of FVIII:C and FVIII:RAg for the definite carriers were 77+/-31% and 132+/-49% respectively. The methodology used in the present work for carrier detection is not ideal and DNA analysis should be introduced in brazilian genetic counselling services.
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spelling .Hemofilia A - revisão bibliográfica, testes laboratoriais em seis famílias e detecção de portadorasThe aim of the present paper was to review the literature on hemophilia A, to diagnose hemophiliacs through FVIII:C and FVIII:RAg assays, to study their families and to detect heterozygotes for the condition. Twenty four persons were testes, from 6 families: 9 hemophiliacs A, 8 probable carriers and 7 definite carriers. Twenty five healthy women were also testes, with mean levels of FVIII:C and FVIII:RAg of 97+/-26% respectively. The mean levels of FVIII:C and FVIII:RAg for the definite carriers were 77+/-31% and 132+/-49% respectively. The methodology used in the present work for carrier detection is not ideal and DNA analysis should be introduced in brazilian genetic counselling services.Os objetivos do presente trabalho foram realizar: 1. Uma revisão bibliográfica sobre hemofilia A. 2. O diagnóstico de hemofílicos A através das dosagens de FVIII:C e FVIII:RAg. 3. O estudo genético das famílias de hemofílicos A através da análise de genealogias. 4. A detecção de portadoras de hemofilia A através da análise de genealogias e de testes laboratoriais. Foram testadas 24 pessoas de 6 genealogias, sendo 9 hemofílicos A, 8 portadoras prováveis e 7 portadoras certas. Uma amostra controle de 25 mulheres saudáveis foi também testada, apresentando nível médio de FVIII:C de 97+/-26% e de FVIII:RAg de 99+/-19%. Os níveis médios de FVIII:C e FIII:RAg na amostra de portadoras certas foram de 77+/-31% e 132+/-49% respectivamente. Os métodos utilizados neste trabalho, para detecção de portadoras, não atendem completamente as expectativas das pessoas que procuram o aconselhamento genético, mas são os únicos viáveis de serem realizados em condições brasileiras. Técnicas mais sofisticadas, tais como a análise de DNA, deveriam ser implantadas a médio prazo.Universidade Federal de Santa Catarina1988-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.ufsc.br/index.php/biotemas/article/view/2317910.5007/%xBiotemas; v. 1 n. 2 (1988); 49-692175-79250103-1643reponame:Biotemas (Online)instname:Universidade Federal de Santa Catarina (UFSC)instacron:UFSCporhttps://periodicos.ufsc.br/index.php/biotemas/article/view/23179/20960Copyright (c) 1988 Eliete Motta, Nadir Ferrariinfo:eu-repo/semantics/openAccessMotta, ElieteFerrari, Nadir2012-02-03T11:42:43Zoai:periodicos.ufsc.br:article/23179Revistahttp://www.biotemas.ufsc.br/index.htmPUBhttps://periodicos.ufsc.br/index.php/biotemas/oai||carlospinto@ccb.ufsc.br2175-79250103-1643opendoar:2012-02-03T11:42:43Biotemas (Online) - Universidade Federal de Santa Catarina (UFSC)false
dc.title.none.fl_str_mv .
Hemofilia A - revisão bibliográfica, testes laboratoriais em seis famílias e detecção de portadoras
title .
spellingShingle .
Motta, Eliete
title_short .
title_full .
title_fullStr .
title_full_unstemmed .
title_sort .
author Motta, Eliete
author_facet Motta, Eliete
Ferrari, Nadir
author_role author
author2 Ferrari, Nadir
author2_role author
dc.contributor.author.fl_str_mv Motta, Eliete
Ferrari, Nadir
description The aim of the present paper was to review the literature on hemophilia A, to diagnose hemophiliacs through FVIII:C and FVIII:RAg assays, to study their families and to detect heterozygotes for the condition. Twenty four persons were testes, from 6 families: 9 hemophiliacs A, 8 probable carriers and 7 definite carriers. Twenty five healthy women were also testes, with mean levels of FVIII:C and FVIII:RAg of 97+/-26% respectively. The mean levels of FVIII:C and FVIII:RAg for the definite carriers were 77+/-31% and 132+/-49% respectively. The methodology used in the present work for carrier detection is not ideal and DNA analysis should be introduced in brazilian genetic counselling services.
publishDate 1988
dc.date.none.fl_str_mv 1988-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://periodicos.ufsc.br/index.php/biotemas/article/view/23179
10.5007/%x
url https://periodicos.ufsc.br/index.php/biotemas/article/view/23179
identifier_str_mv 10.5007/%x
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://periodicos.ufsc.br/index.php/biotemas/article/view/23179/20960
dc.rights.driver.fl_str_mv Copyright (c) 1988 Eliete Motta, Nadir Ferrari
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 1988 Eliete Motta, Nadir Ferrari
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidade Federal de Santa Catarina
publisher.none.fl_str_mv Universidade Federal de Santa Catarina
dc.source.none.fl_str_mv Biotemas; v. 1 n. 2 (1988); 49-69
2175-7925
0103-1643
reponame:Biotemas (Online)
instname:Universidade Federal de Santa Catarina (UFSC)
instacron:UFSC
instname_str Universidade Federal de Santa Catarina (UFSC)
instacron_str UFSC
institution UFSC
reponame_str Biotemas (Online)
collection Biotemas (Online)
repository.name.fl_str_mv Biotemas (Online) - Universidade Federal de Santa Catarina (UFSC)
repository.mail.fl_str_mv ||carlospinto@ccb.ufsc.br
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