Caracterización clínica y de laboratorio de los pacientes con talasemia atendidos en el Hospital de Niños “Dr. Roberto Gilbert Elizalde” desde 1 de enero del 2018 hasta 31 de mayo del 2024.

Abstract

Thalassemia is a group of autosomal recessive hemoglobinopathies, which is characterized by deficient production of normal alpha or beta globin chains that make up hemoglobin, due to a mutation in the gene that produces said chain, which will cause ineffective erythropoiesis, early destruction of red blood cells and anemia. Thalassemia should be suspected in children with microcytic and hypochromic anemia. The methodology used in this research was descriptive observational, with a sample of 98 patients diagnosed with Thalassemia by hemoglobin electrophoresis test, the distribution of patients with thalassemia in this study shows a notable prevalence in the first years of life, in the age group from 1 to 3 years with 32% of cases, which underlines the importance of early diagnosis. Beta thalassemia minor being the most frequently diagnosed type of thalassemia, corresponding to 84% of the total sample. Furthermore, the result was that 47% of the patients presented moderate anemia, while 14% had normal hemoglobin values, which indicates that the majority of these patients present mild clinical manifestations, and in cases of find normal hemoglobin values, but with findings of hypochromia and microcytosis, the Thalassemia study approach should be performed.