Outlines of Beta‐Thalassemia and Its Treatment Lines

Abstract

Background:  Thalassemia is a group of hereditary blood disorders characterized by a reduction or lack of synthesis of some globin chains. Mutations in the beta-globin gene can lead to beta-thalassemia. Anemia is caused by inefficient erythropoiesis, which occurs when there are either fewer beta-globin chains or none at all. The thalassemia syndromes are a heterogeneous group of single gene disorders due to defective biosynthesis of β- or α-globin chains which causes partial or total suppression of normal hemoglobin production. A deficiency in the alpha chain results in alpha thalassemia, while a deficiency in the β chain is associated with β thalassemia  . Treatments for thalassemia major include managing iron chelation, hematopoietic stem cell transplantation, gene therapy, regular blood transfusions, and promotion of fetal hemoglobin production.