Caracterización de pacientes con beta-talasemia en una institución de alta complejidad, Medellín, Colombia

OBJECTIVE: To characterize the patients with beta-thalassemia treated in a highly complex institution. MATERIALS AND METHODS: Descriptive observational study, which included patients younger than 17 years with a diagnosis of beta-thalassemia who had a characteristic clinical profile and laboratory findings. A non-probabilistic sampling of consecutive cases was carried out. RESULTS: Thirty-five medical records were reviewed, 21 were male, whose average age of diagnosis was 6.7 years. The most common clinical finding was anemia in 29/35 and the most common complications were cardiac in 6/35. Regarding treatment, 9/35 were dependent on transfusions, 3/35 required transplantation and 4/35 required splenectomy. The paraclinical studies most used in the diagnosis were hemogram (34/35) and protein electrophoresis (24/35). Out of the 35 patients, 10 had hypochromic macrocytic anemia, 2 normochromic microcytic anemia and one normochromic macrocytic anemia. CONCLUSIONS: Beta-thalassemia occurs mainly in early childhood; it is expressed in clinical phenotypes grouped according to the need or not of transfusions; the latter was the most prevalent. Macrocytic hypochromic anemia was the main clinical finding, which was addressed with medical management rather than with invasive therapies. Due to the size of the sample, more studies are required to enrich the clinical characterization of this disease.