Artículos de revistas
Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil
Registro en:
Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 2, p. 200-202, 2006.
1415-4757
S1415-47572006000200002
10.1590/S1415-47572006000200002
Autor
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
Institución
Resumen
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. 200 202 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)