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

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.

Bibliographic Details

Main Authors:	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
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Genética 2011
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010
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