Introduction:

Among hemoglobinopathies, hemoglobin S is one of the most clinically significant disorders, affecting the beta-globin chain and leading to the development of sickle-shaped red blood cells, also known as drepanocytes. On the other hand, thalassemia is a hematological disorder characterized by a partial or complete decrease in the synthesis of the beta-globin chain.

Objective:

This study presents a case of Hemoglobin S beta-thalassemia, a rare condition in Ecuador, in which a structural abnormality coexists with a quantitative alteration in the beta chains.

Materials and methods:

The methodology included the collection and analysis of the patient's clinical, hematological, and biochemical data, as well as a family study using hemoglobin electrophoresis to determine the presence and proportion of hemoglobin variants.

Results:

The clinical presentation varies, with symptoms related to thalassemia, such as jaundice and splenomegaly, as well as sickle cell disease symptoms, including pain crises, the severity of which depends on the proportion of Hb S, Hb A, and Hb F. In this patient, the diagnosis was established based on clinical presentation, hematological analysis of the patient and parents through hemoglobin electrophoresis, supported by additional hematological and laboratory tests, carefully assessing red blood cell morphology and reticulocyte count.

Conclusion:

This study analyzes the clinical presentation, diagnosis, and treatment, which included hydroxyurea therapy, yielding favorable results in our patient.