Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil

Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil

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 investigatin...

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Bibliographic Details
Main Authors: André Fattori, Elza Miyuki Kimura, Dulcinéia Martins de Albuquerque, Satie Hatsushika Ogo, Graziela Renata Stoppa, Juliana Touquinha Martins, Carmen Silvia Passos Lima, Sara Terezinha Ollala Saad, Fernando Ferreira Costa, Maria de Fátima Sonati
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2006-01-01
Series:Genetics and Molecular Biology
Subjects:
polycythemia
erythrocytosis
Hb Coimbra
beta-globin gene
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000200002
Description
Summary: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.
ISSN:1415-4757
1678-4685

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