Thalassemia intermedia: An overview

Abstract

β-Thalassemia is considered the most common chronic hemolytic anemia in Egypt. Patients with β-thalassemia whose anemia is not so severe as to necessitate regular transfusions are said to have thalassemia intermedia. It is characterized by a significant genetic and clinical heterogeneity. The clinical phenotype ranges between the severe, transfusion-dependent thalassemia major and the asymptomatic carrier state. Thalassemia intermedia represents up to one-fourth of β-thalassemia patients. It is essential to discuss the reasons for the remarkable heterogeneity and natural history of thalassemia intermedia so that an effective method for the control and management of thalassemia intermedia can be established. This review will outline the genetics of hemoglobin biosynthesis as well as an overview on the pathogenesis, molecular basis, hematologic and clinical features of thalassemia intermedia, in addition to management of complications affecting patients with such disorder.

Keywords: Globin genes; LCR; Thalassemia modifiers; Haplotypes; Management