RESUMO
A population of 783 blood donors has been analyzed for serum cholinesterase variants resistant to dibucaine and fluoride. The incidence of these cholinesterase variants in the blood donors was lower than that found in other European countries.
Assuntos
Doadores de Sangue , Colinesterases/sangue , Adulto , Idoso , Colinesterases/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , EspanhaRESUMO
A spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic betathalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A-C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes. Hypotheses are discussed which might explain the presence of these hemoglobins in Spain.
