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

Genetics and Molecular Biology

André Fattori²  Elza Miyuki Kimura¹  Dulcinéia Martins De Albuquerque²  Satie Hatsushika Ogo¹  Graziela Renata Stoppa¹  Juliana Touquinha Martins²  Carmen Silvia Passos Lima²  Sara Terezinha Ollala Saad²  Fernando Ferreira Costa²  Maria De Fátima Sonati¹ 

[1] ,Universidade Estadual de Campinas Centro de Hematologia e Hemoterapia

关键词: polycythemia;    erythrocytosis;    Hb Coimbra;    beta-globin gene;   

DOI  :  10.1590/S1415-47572006000200002

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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