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Type: Artigo de periódico
Title: Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil
Author: Fattori, André
Kimura, Elza Miyuki
Albuquerque, Dulcinéia Martins de
Ogo, Satie Hatsushika
Stoppa, Graziela Renata
Martins, Juliana Touquinha
Lima, Carmen Silvia Passos
Saad, Sara Terezinha Ollala
Costa, Fernando Ferreira
Sonati, Maria de Fátima
Abstract: We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis because in some populations variants with high oxygen affinity may be more frequent than expected but go undetected when conventional electrophoresis is used as the sole detection procedure.
Subject: polycythemia
Hb Coimbra
beta-globin gene
Editor: Sociedade Brasileira de Genética
Citation: Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 2, p. 200-202, 2006.
Rights: aberto
Identifier DOI: 10.1590/S1415-47572006000200002
Date Issue: 1-Jan-2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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