INTRODUCTION: IVS-I-1, IVS-I-6 and CD 39 mutations were studied in 14 patients with β-thalassemia from the population of Fortaleza, capital of Ceará. OBJECTIVE: To provide information on the molecular characterization of β-thalassemia patients from Fortaleza, aiding to define the mutation profile of this hemoglobinopathy in the Northeast region and Brazil. METHODS: β-thalassemia was diagnosed by hematological study conducted in automatic blood cell counter, with review of slides through the test of globular osmotic resistance in NaCl 0.36% and the alkaline electrophoresis on cellulose acetate strips. DNA was isolated from leukocytes extracted from whole blood samples. The analysis of mutations was performed using the technique of allele specific polymerase chain reaction. CD 39, IVSI-1-6 and IVSI-110 were evaluated according to the protocol used in the Hemoglobin and Genetics Laboratory of Hematologic Diseases (LHGDH/UNESP). RESULTS: The distribution of identified mutations was: IVS-I-1 (14.3%), IVS-I-6 (35.7%) and CD 39 (21.4%). The other thalassemia patients (28.6%) showed none of the studied mutations. The highest frequency was IVS-I-6 as anticipated, since studies show that this mutation is more prevalent in the Northeast, as well as IVS-I-1 in the South, and IVSI-110 and CD39 in Southeast of the country. CONCLUSION: These results demonstrate the profile of β-thalassemia mutations in the Northeast region, thus contributing to the study of their distribution in Brazil.
Prevalence; Mutations; β-thalassemia
