DIAGNÓSTICO DE HEMOGLOBINOPATÍAS POR ELECTROFORESIS CAPILAR

Abstract

Severe hemoglobinopathies (HbP), such as thalassemia major and sickle cell disease, are the most common "autosomal recessive" inherited disorders worldwide. Recessive means that the children of parents who are healthy carriers of the traits at risk (the most common are beta thalassemia and hemoglobins (Hb) S, E, C and D), have a 25% chance of being seriously affected, 50% of probability of being a healthy carrier like their parents and a 25% probability of not being a carrier at all. Therefore, HbP are genetic disorders, whose detection in newborns plays a very important role, considering that hundreds of thousands of children with severe hemoglobinopathies are born every year. This project aimed to characterize the HbP detected in capillary electrophoresis (ELC) results. For this, a retrospective, cross-sectional and descriptive study of 123 ELCs carried out between 2015 and 2019 was carried out in Gamma Laboratories in Portoviejo and with suspected HbP. The sample consisted of 58 ELC results from patients with a confirmed clinical diagnosis of HbP at the “Dr. Julio Villacreses Colmont ”(SOLCA) of Portoviejo in the province of Manabí. In this study it was obtained that more than 40% of the electrophoresis studied were pathological; men predominated with respect to women, the most frequent age was 6 to 18 years, most of Portoviejo and mestizos. The most frequent HbP was the presence of HbF in patients homozygous for HbA, followed by homozygous SS and third or lower percentage carriers or patients with sickle cell trait. A small percentage of patients presented Type C HbP, one case with HbE was also observed and two cases with Z1 migration of electrophoresis. In more than 30% of cases no diagnosis was found in the medical records. The predominant clinical diagnosis was sickle cell anemia, the clinical manifestations were multiple in relation to sickle cell disease. Comparisons of Total Hb, A2 and F, resulted in significant differences between homozygous and heterozygous patients. No evidence of confirmation by Molecular Biology of the pathological cases was found