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

Abstract

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.

Keywords

• polycythemia
• erythrocytosis
• Hb Coimbra
• beta-globin gene