Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes
Genet. mol. res. (Online)
; 5(1): 1-6, Mar. 31, 2006. tab, ilus
Artigo
em Inglês
| LILACS
| ID: lil-449152
Biblioteca responsável:
BR1.1
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:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Hemoglobinas Anormais
/
Triagem de Portadores Genéticos
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2006
Tipo de documento:
Artigo
País de afiliação:
Argentina
/
Brasil
Instituição/País de afiliação:
Instituto de Biociências, Letras e Ciências Exatas/BR
/
Universidad Nacional de Misiones/AR