Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil



Título del documento: Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
Revista: Revista brasileira de hematologia e hemoterapia
Base de datos: PERIÓDICA
Número de sistema: 000305969
ISSN: 1516-8484
Autores: 1



Instituciones: 1Universidade Estadual Paulista "Julio de Mesquita Filho", Instituto de Biociencias, Letras e Ciencias Exatas, Sao Paulo. Brasil
Año:
Periodo: Abr-Jun
Volumen: 25
Número: 2
Paginación: 118-121
País: Brasil
Idioma: Portugués
Tipo de documento: Correspondencia
Enfoque: Caso clínico
Resumen en inglés 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
Disciplinas: Medicina
Palabras clave: Hematología,
Genética,
Hemoglobina C,
Beta talasemia
Keyword: Medicine,
Hematology,
Genetics,
Hemoglobin C,
Beta-thalassemia
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