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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 β-globin results in β-thalassemia, whereas defective synthesis of α-globin leads to α-thalassemia. Despite being a monogenic disorder, thalassemia exhibits remarkable clinical heterogeneity that is directly related to the intracellular imbalance between α- and β-like globin chains. Novel insights 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.

Original publication




Journal article


Hematol Oncol Clin North Am

Publication Date





177 - 191


Gene regulation, Genetic modifiers, Globin genes, Hemoglobin, Phenotype-genotype, Thalassemia, α-Globin, Erythrocytes, Erythropoiesis, Gene Expression Regulation, Genes, Modifier, Genetic Association Studies, Genotype, Humans, Phenotype, Severity of Illness Index, Thalassemia, alpha-Globins, alpha-Thalassemia, beta-Globins, beta-Thalassemia