Clinical Classification, Screening and Diagnosis for Thalassemia

Abstract

© 2017 Elsevier Inc. At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non–transfusion-dependent thalassemia. This classification is based on the clinical severity of patients determining whether they do 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 α-thalassemia, hemoglobin E/β-thalassemia and combined α- and β-thalassemias. Definitive diagnosis of thalassemia and hemoglobinopathies requires a comprehensive workup from complete blood count, hemoglobin analysis, and molecular studies to identify mutations of globin genes.