Updates in Thalassemia

Abstract

Beta-thalassemia is a genetic disease caused by mutations in the β-globin gene, resulting in partial or complete deficiency of β-chain. Deficiency of β-chain was accompanied by excess unmatched α-globin chains with subsequent dyserythropoiesis, oxidative stress, and chronic anemia. The main therapeutic option is blood transfusion that improves the anemic status but unfortunately exacerbates iron overload status. Till now, the only curative measure is allo-hematopoietic stem cell transplantation. New diagnostic and therapeutic modalities are now available. These include the preimplantation genetic diagnosis and new tools in the assessment of iron overload. Also, new therapeutic options aimed at different targets are being developed; for example, therapies that stimulate the synthesis of γ-globin and reduce the synthesis of α-globin, as well as the iron excess, dyserythropoiesis, and oxidative stress. However, the most likely ideal approach is efficient prevention, through genetic counseling, carrier detection, and prenatal diagnosis.

Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing

“…The spectrum ranges from asymptomatic (or with mild anemia (thalassemia minor)) thalassemia carriers, to symptomatic (mild, moderate, or severe) thalassemia (TDT or NTDT). A comprehensive understanding of the pathophysiology of thalassemia has led to the development of new therapeutic strategies [106].…”

Assessment of Sleep Disorders in Children with Transfusion-Dependent Hemoglobinopathies

“…Thalassemias are hereditary. Hemoglobin develops with two β-chains and two α-chains [11,12]. In α-thalassemia, the α-globin gene cluster is altered, whereas beta-thalassemia involves mutations in the gene coding for β-globin.…”