Publication
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal
| dc.contributor.author | Cabeda, J. | |
| dc.contributor.author | Correia, C. | |
| dc.contributor.author | Estevinho, A. | |
| dc.contributor.author | Simões, C. | |
| dc.contributor.author | Amorim, M. | |
| dc.contributor.author | Pinho, L. | |
| dc.contributor.author | Justiça, B. | |
| dc.date.accessioned | 2010-09-21T12:58:25Z | |
| dc.date.available | 2010-09-21T12:58:25Z | |
| dc.date.issued | 1999-04 | |
| dc.description.abstract | 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. | por |
| dc.identifier.citation | Br J Haematol. 1999 Apr;105(1):68-74. | por |
| dc.identifier.issn | 1365-2141 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/440 | |
| dc.language.iso | eng | por |
| dc.publisher | Wiley-Blackwell | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.1999.01295.x/pdf | por |
| dc.subject | b-thalassaemia | por |
| dc.subject | b-globin | por |
| dc.subject | mutations | por |
| dc.subject | Portugal | por |
| dc.subject | codon 6(-A) | por |
| dc.title | Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | England | por |
| oaire.citation.endPage | 74 | por |
| oaire.citation.startPage | 68 | por |
| oaire.citation.title | British journal of haematology | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal.pdf
- Size:
- 145.39 KB
- Format:
- Adobe Portable Document Format
License bundle
1 - 1 of 1
No Thumbnail Available
- Name:
- license.txt
- Size:
- 1.71 KB
- Format:
- Item-specific license agreed upon to submission
- Description: