RESUMO
A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.
Assuntos
Anemia Hemolítica Congênita não Esferocítica/genética , Anemia Hemolítica Congênita/genética , Variação Genética , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Adulto , Costa Rica , Eletroforese em Gel de Amido , Humanos , MasculinoRESUMO
Among the rare hemoglobinopathies found in Cost Rica are those of the Alfa, Beta, and Delta chains. Among these, Hb Cubujuquí, an undescribed variant, is of special interest. There was an association between the different thalassemic syndromes and their combinations with abnormal hemoglobins.