%0 Journal Article
%T 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
%A Sonati
%A Maria de F¨¢tima
%A Kaeda
%A Jaspal
%A Kimura
%A Elza Miyuki
%A Costa
%A Fernando Ferreira
%A Luzzatto
%A Lucio
%J Genetics and Molecular Biology
%D 1998
%I Sociedade Brasileira de Gen¨¦tica
%R 10.1590/S1415-47571998000400002
%X 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.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47571998000400002&lng=en&nrm=iso&tlng=en