title: Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil.
abstract: 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β(0)IVS-I-1, β(+)IVS-I-6, and β(0)39). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the β(+)IVS-I-6 mutation, 15 (48.4%) the β(0)IVS-I-1 mutation, 2 (6.5%) the β(+)IVS-I-110 mutation and 1 (3.2%) the β(+)IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.
authors.affiliation: Departamento de Análises Clínicas e Toxicológicas, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
authors.forename: Zama Messala Luna
authors.initials: ZM
authors.lastname: da Silveira
authors.forename: Maria
authors.initials: M
authors.lastname: das Vitórias Barbosa
authors.forename: Thales Allyrio Araújo
authors.initials: TA
authors.lastname: de Medeiros Fernandes
authors.forename: Elza Miyuki
authors.initials: EM
authors.lastname: Kimura
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.forename: Maria
authors.initials: M
authors.lastname: de Fátima Sonati
authors.forename: Ivanise Marina Moretti
authors.initials: IM
authors.lastname: Rebecchi
authors.forename: Tereza Maria Dantas
authors.initials: TM
authors.lastname: de Medeiros