Data/hora: 09/06/2024 17:01:53

Provedor de dados: | 74
País: | Brazil
Título: | Polycythemia and Hb Coimbra [beta 99 (G1) Asp -&gt; Glu] in Brazil
Autores: | 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.
Data: | 2006-01-01
Ano: | 2006
Palavras-chave: | Polycythemia; Erythrocytosis; Hb Coimbra; Beta-globin gene.
Resumo: | 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000200002
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572006000200002
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.29 n.2 2006
Fonte: | info:eu-repo/semantics/openAccess