Data/hora: 02/06/2024 01:29:01

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