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Type: Artigo de periódico
Title: β-thalassemia Intermedia In A Brazilian Patient With - 101 (c > T) And Codon 39 (c > T) Mutations
Author: de Sousa S.M.
Khater L.
Peroni L.A.
Miranda K.
Murai M.J.
Albuquerque D.M.
Arruda P.
Ollala Saad S.T.
Ferreira Costa F.
Abstract: 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.
Rights: aberto
Identifier DOI: 
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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