Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte Brazil

摘要

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 (β⁰IVS-I-1, β⁺IVS-I-6, and β⁰39). 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 β⁰IVS-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.