Beta-thalassemia intermedia in a Brazilian patient with-101 (C > T) and codon 39 (C > T) mutations.

CONTEXT We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS This case represents the first description of -101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.