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Type: Artigo de periódico
Title: Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil
Author: Silveira, Zama Messala Luna da
Barbosa, Maria das Vitórias
Fernandes, Thales Allyrio Araújo de Medeiros
Kimura, Elza Miyuki
Costa, Fernando Ferreira
Sonati, Maria de Fátima
Rebecchi, Ivanise Marina Moretti
Medeiros, Tereza Maria Dantas de
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 (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.
Subject: hereditary hemoglobinopathies
Brazilian population
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572011005000032
Date Issue: 1-Jan-2011
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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