Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195378
Type: Artigo de periódico
Title: Beta-thalassemia Intermedia In A Brazilian Patient With-101 (c > T) And Codon 39 (c > T) Mutations.
Author: de Sousa, Sylvia Morais
Khater, Letícia
Peroni, Luis Antônio
Miranda, Karine
Murai, Marcelo Jun
Albuquerque, Dulcinéia Marlins
Arruda, Paulo
Saad, Sara Terezinha Ollala
Costa, Fernando Ferreira
Abstract: 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%. To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. Molecular inquiry into the mutations possibly responsible for the clinical picture described. The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. 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. Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). This case represents the first description of -101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.
Subject: Aged
Codon
Globins
Humans
Male
Point Mutation
Polymerase Chain Reaction
Beta-thalassemia
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/12751341
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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