Contribuição do estudo molecular de hemoglobinas S-like para o conhecimento da diversidade genética da população brasileira



Título del documento: Contribuição do estudo molecular de hemoglobinas S-like para o conhecimento da diversidade genética da população brasileira
Revista: Revista brasileira de hematologia e hemoterapia
Base de datos: PERIÓDICA
Número de sistema: 000306045
ISSN: 1516-8484
Autores: 1
Instituciones: 1Universidade Estadual Paulista "Julio de Mesquita Filho", Instituto de Biociencias, Sao Paulo. Brasil
Año:
Periodo: Jul-Sep
Volumen: 27
Número: 3
Paginación: 208-210
País: Brasil
Idioma: Portugués
Tipo de documento: Correspondencia
Enfoque: Descriptivo
Resumen en inglés Over 900 hemoglobin variants have already been described, with more than 100 having electrophoretic migration similar to Hb S in alkaline pHs. In the analysis of 98 samples that presented with this migration pattern, Hb D-Los Angeles in heterozygosis was prevalent and associations with Hb S and Hb Lepore were identified, a previously unpublished fact and with beta-thalassemia, which is also rare. In addition, carriers of Hb Korle-Bu and Hb Hasharon were found amongst other hemoglobinopathies. This heterogeneity reflects the special colonization conditions and the high racial admixture in Brazil. The correct laboratorial diagnosis is very important for hemoglobinopathy carriers because of the many associations of hemoglobin alterations and the variants with co-migration. An accurate identification of hemoglobin variants is essential for genetic counseling and appropriate therapy
Disciplinas: Medicina
Palabras clave: Hematología,
Genética,
Hemoglobina,
Diversidad genética,
Brasil
Keyword: Medicine,
Hematology,
Genetics,
Hemoglobin,
Genetic diversity,
Brazil
Texto completo: Texto completo (Ver HTML)