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Type: Artigo de periódico
Title: Genetic Analysis Of β-thalassemia Major And β-thalassemia Intermedia In Brazil
Author: Fonseca S.F.
Kerbauy J.
Escrivao C.
Figueiredo M.S.
Cancado R.
Arruda V.R.
Saad S.T.O.
Costa F.F.
Abstract: The development of methodologies to identify the molecular lesions responsible for different types of β-thalassemia has made it possible to correlate these data with clinical and hematological severity. We examined DNA from 35 patients with β-thalassemia, residents of the State of Sao Paulo, Brazil, for some types of genetic modifying factors: β-thalassemia mutations, the upstream XmnI (G)γ-globin gene polymorphisms, and α-globin gene deletions. Additionally, the β-like gene cluster haplotypes and the presence of the (A)γ(T) variant were studied. The following mutations were present in the 70 chromosomes studied: 54.3% codon 39 (C→T) (β+); 18.6% IVS-I-6 (T→C) (β+); 18.6% IVS-I-110 (G→A) (β+), and 4.3% IVS-I-1 (G→T) (β°). Haplotype II was associated with the nonsense mutation at codon 39, haplotype I with the IVS-I-110 and codon 39 mutations, and haplotypes VI and VII with the IVS-I-6 mutation. The XmnI polymorphism was detected in three out of 31 patients studied. No α-thalassemia was detected among the thalassemia intermedia patients. The (A)γ(T) variant was present in 87.1% of 31 thalassemia patients and was associated with the codon 39/haplotype II and IVS-I-6/haplotype VI mutations. This is the first study of the Brazilian population that has analyzed the β-thalassemia mutations and other molecular variants, and has correlated them with the clinical manifestations.
Rights: fechado
Identifier DOI: 
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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