Hemoglobinopathies are a group of red blood cell productivity disorders, including α-thalassemia, β-thalassemia, and sickle cell disease (SCD), that are autosomal recessive and very common in Mediterranean, Middle Eastern, East Asian, and African countries. Thalassemia presents with the following clinical signs and symptoms: fatigue, weakness, yellowish skin, facial bone deformities, and abdominal swelling. Genetic studies have successfully characterized the key variants and pathways involved in hemoglobin F (HbF) regulation, providing new therapeutic targets for HbF reactivation. According to the current literature, using lentivirus vector for gene therapy and genome-editing-based treatment strategies for β-thalassemia and SCD have been discussed and well documented. According to current studies, novel treatments are becoming more important for thalassemia patients, because the consequences of supportive treatments are not sufficient for patients and their families. Supportive treatment does not have a positive effect on the survival rate of β-thalassemia patients. New treatments are empowering to develop develop a gene therapy for β-thalassemia and include pharmacological or disruption of BCL11A erythroid enhancer by CRISPR-CAS9 technology in addition to zinc-finger or transcription activator-like effector nuclease, and attempts at repairing the defective β-globin gene in hematopoietic stem cells by genome editing. These approaches are needed to improve for being more successful; gene addition has the advantage of making use of a single product applicable to all cases of β-thalassemia.
Part of the book: Thalassemia and Other Hemolytic Anemias