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Type: Artigo de periódico
Title: Mild Clinical Expression Of S-β Thalassemia In A Brazilian Patient With The β+ Ivs-i-6 (t→c) Mutation
Author: De Sonati M.F.
Kaeda J.
Kimura E.M.
Costa F.F.
Luzzatto L.
Abstract: We report on an eight-year-old Brazilian girl with S-β+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of β-globin gene showed her to be heterozygous for the IVS-I-6 (T→C) mutation. This β+ 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 β(s) gene, this mutation results in very mild sickle cell disease symptoms.
Editor: Brazilian Journal of Genetics
Rights: aberto
Identifier DOI: 
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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