Abstract
Introduction: the hemoglobinopathies represent the most common group of genetic disorders worldwide, with higher prevalence in black population. In Colombia there are regions with high density population of African descent, which raises the need to develop strategies for early identification of carriers and patients with preventive purposes. Objective: realize early identification of hemoglobinopathies in dried blood samples from the umbilical cord. Material and methods: for the dried blood samples we used routine neonatal screening cards for congenital hypothyroidism. The blood is eluted by means of aqueous buffer solutions and then applied for separation by electrophoresis in isoelectric focusing gels and in capillary electrophoresis column. Results: of the 5141cord dried blood samples received, 1294 were discarded due to quality problems; 3847 (75%) were processed and of these, 3244 (84%) were appropriate for the study. We found 288 (7%) with some hemoglobin variant, FC (1.88%), FS (4.65%), SC (0.06%), SS (0.12%), Bart (0.18%) , FC / other (0.12%). Conclusions: dried blood samples of umbilical cord allow the study of the different variants of abnormal hemoglobins by capillary electrophoresis and isoelectric focusing, which may be applicable to an early diagnosis in the neonatal screening, provided that quality requirements in the sample application and in the delivery time for analysis are accomplished
Highlights
Material and methods: for the dried blood samples we used routine neonatal screening cards for congenital hypothyroidism
The blood is eluted by means of aqueous buffer solutions and applied for separation by electrophoresis in isoelectric focusing gels and in capillary electrophoresis column
Conclusions: dried blood samples of umbilical cord allow the study of the different variants of abnormal hemoglobins by capillary electrophoresis and isoelectric focusing, which may be applicable to an early diagnosis in the neonatal screening, provided that quality requirements in the sample application and in the delivery time for analysis are accomplished. (Acta Med Colomb 2012: 37: 118-124)
Summary
Discusión Las muestras de sangre seca que se utilizan en el tamizaje neonatal de hipotiroidismo congénito, mostraron ser adecuadas para evaluar hemoglobinas anormales, por las técnicas de electroforesis capilar y electroforesis de isoelectroenfoque, que son las técnicas de uso actual, con la debida automatización. De esta manera se evidenció que la muestra de sangre seca sirve para el propósito de tamizaje neonatal de hemoglobinopatías, siempre que se cumplan unos requisitos de calidad. En este estudio todas las variantes encontradas son conocidas, por esa razón no hubo necesidad de hacer análisis del ADN, sin embargo había muestra suficiente para ese propósito. Hubo variación en la calidad de las muestras según su origen por departamento, lo cual puede ser interpretado como diferencias en los tiempos de remisión, que tiene como consecuencia el envejecimiento de las mismas y esto genera problemas para el procesamiento (Tabla 5). Eficiencia en el uso de la muestra de sangre seca por departamento
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