Abstract

ROSERO, María Jimena  and  BERMUDEZ, Antonio José. Analysis of hemoglobinopathies in afro-colombian regions using dried blood samples of umbilical cord. Acta Med Colomb [online]. 2012, vol.37, n.3, pp.117-126. ISSN 0120-2448.

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. (Acta Med Colomb 2012: 37: 118-124).

Keywords : neonatal screening; isoelectric focusing; capillary electrophoresis; falciform trait; drepanocytosis; mutation.

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