Diagnosis of hemoglobinopathies by capillary electrophoresis in ecuadorian patients

Abstract

Hemoglobinopathies manifest with a wide variety of clinical symptoms and may require blood transfusions throughout the patient’s life. The diagnostic process and follow-up of these pathologies is based on the identification of abnormal hemoglobin (Hb) fractions in electrophoretic profiles. The aim of this work was to characterize the hemoglobinopathies detected in capillary electrophoresis results of samples from Ecuadorian patients, from an epidemiological and laboratory diagnostic perspective. A retrospective, cross-sectional and descriptive study of 58 results with hemoglobinopathies obtained in Gamma Laboratories of Portoviejo between 2015 and 2019 was performed. Most patients presented sickle cell anemia, were mixed race, male and aged between 6 and 18 years. Fetal Hb was found in more than 50% of patients, 26% HbSS homozygotes and 3% HbCC, 17% S, C and E heterozygotes and two cases with Z1 zone migration. There were significant differences between homozygous and heterozygous patients for total, A2 and fetal hemoglobin concentration. The results constitute a contribution to the study of the disease in the region, underline the importance of implementing early diagnosis for hemoglobinopathies and the need to confirm pathological cases by molecular biology techniques, in order to improve the care of affected individuals.