title: Beta-thalassemia mutations in the Portuguese population.
abstract: In this study we have carried out haplotype analysis on the beta-globin gene cluster and characterized the beta-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/beta-thalassemia originating from southern Portugal. We found that three mutations, namely the beta(0)-39, beta(0) IVS-1 nt 1 and beta(+) IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the beta-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the beta(0)-39 mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal.
authors.affiliation: Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Portugal.
authors.forename: M P
authors.initials: MP
authors.lastname: Gomes
authors.forename: M G
authors.initials: MG
authors.lastname: da Costa
authors.forename: L B
authors.initials: LB
authors.lastname: Braga
authors.forename: N T
authors.initials: NT
authors.lastname: Cordeiro-Ferreira
authors.forename: A
authors.initials: A
authors.lastname: Loi
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D005810:Multigene Family; D009154:Mutation; D011174:Portugal; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins