Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Más filtros










Base de datos
Tipo de estudio
Intervalo de año de publicación
1.
Nouv Rev Fr Hematol (1978) ; 29(5): 317-20, 1987.
Artículo en Francés | MEDLINE | ID: mdl-3438164

RESUMEN

We report the first case of Hb Boumerdes, an alpha chain variant alpha 2(37) (C2) Pro----Arg beta 2, in an Algerian family. The propositus was also homozygous for the sickle cell gene. The abnormal hybrid Hb alpha 2Boum. beta 2S had an electrophoretic mobility on cellulose acetate pH 8.7 electrophoresis between those of Hb S and Hb A2. Its expression was about 16%. The alpha 2Boum. beta 2A fraction has a mobility between those of Hb F and Hb S. The effects of this mutation on Hb oxygen affinity and deoxy Hb S polymer formation were not studied. The propositus' sickle cell phenotype was benign.


Asunto(s)
Anemia de Células Falciformes/genética , Enfermedad de la Hemoglobina SC/genética , Hemoglobinas Anormales/análisis , Mutación , Adolescente , Adulto , Argelia , Niño , Preescolar , Cromatografía Líquida de Alta Presión , Femenino , Enfermedad de la Hemoglobina SC/sangre , Enfermedad de la Hemoglobina SC/etnología , Homocigoto , Humanos , Focalización Isoeléctrica , Masculino , Linaje
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA