Molecular Basis and Genetic Modifiers of Thalassemia

Abstract

Thalassemia syndromes are common monogenic disorders and represent a significant health issue worldwide. In this review, the authors elaborate on fundamental genetic knowledge about thalassemias, including the structure and location of globin genes, the production of hemoglobin during development, the molecular lesions causing α-, β-, and other thalassemia syndromes, the genotype-phenotype correlation, and the genetic modifiers of these conditions. In addition, they briefly discuss the molecular techniques applied for diagnosis and innovative cell and gene therapy strategies to cure these conditions.

Keywords: Genetic modifiers; Genotype-phenotype; Globin genes; Hemoglobin; Hemoglobin switch; Molecular genetics; Thalassemia.