THALASSEMIA AS A GENETIC DISORDER
Abstract
Description Thalassemia as a Genetic Disorder: From β-Globin Mutation to Precision Prevention and Gene-Based Therapy is an evidence-informed international review that provides a comprehensive overview of thalassemia as an inherited genetic disorder, with particular emphasis on the molecular basis of disease, β-globin gene mutations, genotype–phenotype relationships, disease mechanisms, clinical manifestations, diagnosis, prevention, and emerging therapeutic strategies. The manuscript examines how pathogenic variants affecting β-globin synthesis contribute to ineffective erythropoiesis, chronic anemia, iron overload, and the major clinical complications associated with thalassemia. It also discusses advances in molecular diagnostics, carrier screening, genetic counseling, prenatal and preimplantation genetic testing, and population-based prevention strategies. A major focus of this review is the transition from conventional supportive management toward precision medicine and gene-based therapies. Recent developments in hematopoietic stem-cell transplantation, genome editing, gene addition, and other molecularly targeted approaches are considered in the context of their potential to modify the underlying genetic cause of disease. By integrating genetic, clinical, preventive, and therapeutic perspectives, this review aims to provide researchers, physicians, genetic counselors, students, and public-health professionals with an accessible evidence-informed synthesis of current knowledge and emerging directions in thalassemia prevention and treatment. Keywords: Thalassemia; β-thalassemia; α-thalassemia; β-globin gene; HBB gene; genetic mutations; hemoglobin disorders; inherited blood disorders; anemia; ineffective erythropoiesis; iron overload; genetic screening; carrier screening; genetic counseling; prenatal diagnosis; preimplantation genetic testing; molecular diagnostics; precision medicine; gene therapy; gene editing; genome editing; CRISPR; hematopoietic stem-cell transplantation; gene-based therapy; transfusion-dependent thalassemia; thalassemia prevention; personalized medicine.
