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Mild clinical expression of S-<FONT FACE=Symbol>b</font> thalassemia in a Brazilian patient with the <FONT FACE=Symbol>b</font>+ IVS-I-6 (T<FONT FACE=Symbol>®</font>C) mutation

We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portugue...

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Autors principals: Maria de Fátima Sonati, Jaspal Kaeda, Elza Miyuki Kimura, Fernando Ferreira Costa, Lucio Luzzatto
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Genética 1998-12-01
Col·lecció:Genetics and Molecular Biology
Accés en línia:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002&tlng=en
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