Consulta: creatorFacets:"Kaeda,Jaspal"
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Data/hora: 16/06/2024 17:52:47

Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation
Provedor de dados: 74
Autores: Sonati,Maria de Fátima; Kaeda,Jaspal; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Luzzatto,Lucio.
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 Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms.
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002