EXPLORING THE IMPACT OF GENETICS IN THE DIAGNOSIS AND MANAGEMENT OF THALASSEMIA: A NARRATIVE REVIEW

Abstract

Thalassemia refers to a collection of inherited hemoglobin disorders resulting from mutations in the α- or β-globin genes, which causes impaired hemoglobin production and a range of clinical symptoms. Grasping the genetic foundations of thalassemia is crucial for precise diagnosis, risk assessment, and the creation of tailored treatment plans. This narrative review seeks to examine the influence of genetics on the identification and treatment of thalassemia, emphasizing progress in molecular diagnostics, treatment strategies, and new gene-targeted therapies. An extensive literature review was performed utilizing PubMed, Scopus, Web of Science, and Google Scholar to locate research on the genetics of thalassemia, molecular diagnosis, treatment approaches, and gene therapy. Both original research and review articles published in English until October 2025 were included. Essential themes were identified and categorized into genetic mechanisms, diagnostic instruments, treatment methods, and future perspectives. Genetic knowledge has revolutionized thalassemia treatment, allowing for accurate mutation identification, strategic transfusion preparation, and focused therapies. Molecular methods like PCR, MLPA, and next-generation sequencing enable precise diagnosis and identification of carriers. Progress in hematopoietic stem cell transplantation and gene therapy, featuring lentiviral and CRISPR/Cas9 techniques, presents possible curative solutions. Genetic modifiers, including co-inherited α-thalassemia and polymorphisms that promote fetal hemoglobin, greatly affect disease severity and treatment needs. Incorporating genetic insights into clinical practice improves the diagnosis and tailored treatment of thalassemia. New gene-based therapies offer hope for cures, and continuing research on genetic modifiers can enhance patient results. This review offers an extensive framework connecting genetic mechanisms to current and emerging therapeutic approaches. Peer Review History: Received 22 December 2025; Reviewed 9 January 2026; Accepted 17 February; Available online 15 March 2026 Academic Editor: Dr. Jennifer Audu-Peter, University of Jos, Nigeria, drambia44@gmail.com Reviewers: Dr. Nuray Arı, Ankara University, Turkiye, ari@ankara.edu.tr Dr. Peter Juma Ochieng, Biotech Research Center (BRC), Obuda University, Hungary, peter26juma@gmail.com