Abstract

SONATI, Maria de Fátima et al. Mild clinical expression of S-b thalassemia in a Brazilian patient with the b⁺ IVS-I-6 (T®C) mutation. Genet. Mol. Biol. [online]. 1998, vol.21, n.4 ISSN 1415-4757.  http://dx.doi.org/10.1590/S1415-47571998000400002.

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 b^S gene, this mutation results in very mild sickle cell disease symptoms.