β-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 β-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 ft, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A 2 = 6.78% and hemoglobin A = 79.4%. Objective: To identify mutations in a patient with the symptoms of β-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 β 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 cases represents the first description of -101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.12112830Baysal, E., Carver, M.F.H., The beta and delta-thalassemia repository (1995) Hemoglobin., 19 (3-4), pp. 213-236Zago, M.A., Costa, F., Bottura, C., Beta-thalassemia in Brazil (1981) Braz. J. Med. Biol. Res., 14 (6), pp. 383-388Ewing, B., Green, P., Base-calling of automated sequencer traces using Phred. II Error probabilities (1998) Genome Res., 8 (3), pp. 186-194Green, P., (2002), http://bozeman.genome.washington.edu/phrap.docs/phrap.html, The Phred/Phrap/Consed System Home Page. Phrap Assembler. Available at URL September 30Gordon, D., Abajian, C., Green, P., Consed: A graphical tool for sequence finishing (1998) Genome Res., 8 (3), pp. 195-20