Unexpected pattern of b-globin mutations in b-thalassaemia patients from northern Portugal

  title={Unexpected pattern of b-globin mutations in b-thalassaemia patients from northern Portugal},
  author={S Jo and M. CABEDA and CRISTINA CORRE and Maria Lu{\'i}s Amorim and BENVINDO JUST},
  • S Jo, M. CABEDA, +2 authors BENVINDO JUST
  • Published 1999
We characterized the genetic nature of bthalassaemia in northern Portugal. Of the 164 patients studied three were b-thalassaemia major cases (one IVS-1-6/ b839 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(1A) mutation was unexpectedly frequent (40%) and associated with the b-globin haplotype E, and not with the usual European and North African CD6(1A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and b839 (19… CONTINUE READING


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