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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|
|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.|
|Editor:||Soc Brasil Genetica|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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