Data/hora: 18/06/2024 11:00:07

Provedor de dados: | 74
País: | Brazil
Título: | Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation
Autores: | Sonati,Maria de Fátima; Kaeda,Jaspal; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Luzzatto,Lucio.
Data: | 1998-12-01
Ano: | 1998
Resumo: | 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
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47571998000400002
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.21 n.4 1998
Fonte: | info:eu-repo/semantics/openAccess