Genetics and Molecular Biology | |
Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil | |
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
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
【 预 览 】
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RO202005130147555ZK.pdf | 234KB | download |