A importância do diagnóstico laboratorial clássico na identificação de variantes de hemoglobinas



Título del documento: A importância do diagnóstico laboratorial clássico na identificação de variantes de hemoglobinas
Revista: Revista brasileira de hematologia e hemoterapia
Base de datos: PERIÓDICA
Número de sistema: 000306081
ISSN: 1516-8484
Autores: 1

Instituciones: 1Universidade Estadual Paulista "Julio de Mesquita Filho", Sao Paulo. Brasil
Año:
Periodo: Ene-Mar
Volumen: 27
Número: 1
Paginación: 72-74
País: Brasil
Idioma: Portugués
Tipo de documento: Correspondencia
Enfoque: Descriptivo
Resumen en inglés Variant hemoglobins originate principally from simple amino acid substitutions, resulting in nucleotides sequence changes. Currently, the number of abnormal hemoglobins identified has increased due to the improvement in the analytic methodologies; however, many routine laboratories are not prepared for correct mutant identification. Thus, we aimed at characterizing the variant hemoglobins in blood samples sent to our laboratory using several analytic methodologies. Eighty-three samples of peripheral blood collected in EDTA were analyzed by cytological, biochemical, electrophoretical and chromatographic methods. The results of the elecphoretical procedures in alkaline pH indicated several migration patterns, with 45% of the samples in the hemoglobin S position. The differentiation of this hemoglobin was only possible with the association of electrophoretical and chromatographic methods. The profiles of the mutants observed in globin chain electrophoresis were 42% of beta chain mutants, 29% of alpha chain, 5% of delta chain, 4% of gamma chain and 2% of delta/beta chains fusion. The global results showed that the variants could not have been identified by the usual electrophoretical methods alone evidencing the difficulty in identification, specifically in cases with profiles similar to hemoglobin S in alkaline conditions, which can be incorrectly diagnosised. Therefore, for the identification of variant hemoglobins and a diagnostic reliability the association of electrophoretical, chromatography and globin chain analyses as a pre-molecular procedure is fundamental
Disciplinas: Medicina
Palabras clave: Diagnóstico,
Hematología,
Hemoglobina,
Variantes,
Polimorfismo
Keyword: Medicine,
Diagnosis,
Hematology,
Hemoglobin,
Variants,
Polymorphism
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