Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/440 |
Resumo: | We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugalb-thalassaemiab-globinmutationsPortugalcodon 6(-A)We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found.Wiley-BlackwellRepositório Científico do Centro Hospitalar do PortoCabeda, J.Correia, C.Estevinho, A.Simões, C.Amorim, M.Pinho, L.Justiça, B.2010-09-21T12:58:25Z1999-04-01T00:00:00Z1999-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/440engBr J Haematol. 1999 Apr;105(1):68-74.1365-2141info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-05T12:39:01ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
title |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
spellingShingle |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal Cabeda, J. b-thalassaemia b-globin mutations Portugal codon 6(-A) |
title_short |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
title_full |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
title_fullStr |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
title_full_unstemmed |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
title_sort |
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal |
author |
Cabeda, J. |
author_facet |
Cabeda, J. Correia, C. Estevinho, A. Simões, C. Amorim, M. Pinho, L. Justiça, B. |
author_role |
author |
author2 |
Correia, C. Estevinho, A. Simões, C. Amorim, M. Pinho, L. Justiça, B. |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar do Porto |
dc.contributor.author.fl_str_mv |
Cabeda, J. Correia, C. Estevinho, A. Simões, C. Amorim, M. Pinho, L. Justiça, B. |
dc.subject.por.fl_str_mv |
b-thalassaemia b-globin mutations Portugal codon 6(-A) |
topic |
b-thalassaemia b-globin mutations Portugal codon 6(-A) |
description |
We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found. |
publishDate |
1999 |
dc.date.none.fl_str_mv |
1999-04-01T00:00:00Z 1999-04-01T00:00:00Z 2010-09-21T12:58:25Z |
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 |
http://hdl.handle.net/10400.16/440 |
url |
http://hdl.handle.net/10400.16/440 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Br J Haematol. 1999 Apr;105(1):68-74. 1365-2141 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wiley-Blackwell |
publisher.none.fl_str_mv |
Wiley-Blackwell |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
|
repository.mail.fl_str_mv |
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1777301173252915201 |