Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil / Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil
Rev. bras. hematol. hemoter
; 25(2): 118-121, abr.-jun. 2003. ilus
Artigo
em Português
| LILACS
| ID: lil-351824
Biblioteca responsável:
BR408.3
ABSTRACT
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Hemoglobina C
/
Talassemia beta
/
Testes Hematológicos
Tipo de estudo:
Estudo de prevalência
/
Fatores de risco
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Português
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
Hematologia
Ano de publicação:
2003
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Estadual Paulista/BR
/
Universidade Paulista/BR
/
Universidade de Cuiabá/BR