Clinical Classification, Screening and Diagnosis for Thalassemia

At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia. This classification is based on the clinical severity of the disease, determining whether patients require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non-transfusion-dependent thalassemia). In addition to the previous terminology of thalassemia major or thalassemia intermedia, this classification has embraced all other forms of thalassemia syndromes, such as alpha-thalassemia, hemoglobin E/beta-thalassemia, and combined alpha- and beta-thalassemias. Definitive diagnosis of thalassemia and hemoglobinopathies requires a comprehensive workup, including complete blood count, hemoglobin analysis, and molecular studies to identify mutations of globin genes.