Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/440
Título: Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal
Autor: Cabeda, J.
Correia, C.
Estevinho, A.
Simões, C.
Amorim, M.
Pinho, L.
Justiça, B.
Palavras-chave: b-thalassaemia
codon 6(-A)
Data: Abr-1999
Editora: Wiley-Blackwell
Citação: Br J Haematol. 1999 Apr;105(1):68-74.
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.
URI: http://hdl.handle.net/10400.16/440
ISSN: 1365-2141
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.1999.01295.x/pdf
Aparece nas colecções:SHC - Artigos publicados em revistas indexadas na Medline

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