Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes
Genet. mol. res. (Online)
;
5(1): 1-6, Mar. 31, 2006. tab, ilus
Artículo
en Inglés
| LILACS
| ID: lil-449152
ABSTRACT
Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC --> CAC) of the alpha2-globin gene, resulting in the replacement of asparagine by histidine during the translation process. Ten blood samples from individuals suspected of being Hb Hasharon carriers were analyzed. In addition to classic laboratory tests and high-performance liquid chromatography, molecular analysis by polymerase chain reaction with restriction fragment length polymorphism designed in the laboratory was performed to confirm this mutation. The study of these cases showed that a combination of classical and molecular methodologies is necessary in the diagnosis of hemoglobinopathies for a correct hemoglobin mutant identification. The accurate identification of hemoglobin variants is essential for genetic counseling and choice of therapy.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Hemoglobinas Anormales
/
Tamización de Portadores Genéticos
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2006
Tipo del documento:
Artículo
País de afiliación:
Argentina
/
Brasil
Institución/País de afiliación:
Instituto de Biociências, Letras e Ciências Exatas/BR
/
Universidad Nacional de Misiones/AR
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