Molecular Basis and Genetic Modifiers of Thalassemia

Thalassemia is a disorder of hemoglobin characterized by reduced or absent production of one of the globin chains in human red blood cells with relative excess of the other. Impaired synthesis of beta-globin results in beta-thalassemia, whereas defective synthesis of alpha-globin leads to alpha-thalassemia. Despite being a monogenic disorder, thalassemia exhibits remarkable clinical heterogeneity that is directly related to the intracellular imbalance between alpha- and beta-like globin chains. Novel in-sights into the genetic modifiers have contributed to the understanding of the correlation between genotype and phenotype and are being explored as therapeutic pathways to cure this life-limiting disease.