Thalassemia and its relevance to personalized medicine

Abstract

Thalassemias are the most common monogenic gene disorders in the world. Patients present with a wide variability of clinical phenotypes ranging from severe phenotype (β-thalassemia major) to a very mild, almost symptomless, condition. This variability is owing to the presence of a large number of genetic modifiers affecting the disease. Patients are treated with blood transfusions and iron chelation therapy. Pharmacological therapies have varying degrees of success depending on the genetic modifiers of the disease present in the patients. Studies undertaken to identify all the modifiers that affect β-thalassemia will lead to more appropriate genetic counseling during prenatal diagnosis and enable targeted and personalized treatment regimens for patients in the future.