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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.|
|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|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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