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Type: Artigo de periódico
Title: Mild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation
Author: Sonati, MD
Kaeda, J
Kimura, EM
Costa, FF
Luzzatto, L
Abstract: We report on an eight-year-old Brazilian girl with S-beta(+) thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of beta-globin gene showed her to be heterozygous for the IVS-I-6 (T-->C) mutation. This beta(+) thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C-->T polymorphism at codon 2. In combination with the beta(S) gene, this mutation results in very mild sickle cell disease symptoms.
Country: Brasil
Editor: Soc Brasil Genetica
Rights: aberto
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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