Perspective Chapter: Advances in Diagnosis of Beta Thalassemia Major

Abstract

Beta Thalassemia Major is a severe inherited blood disorder caused by mutations in the HBB gene, resulting in reduced or absent production of beta-globin chains. This condition leads to chronic anemia, requiring regular blood transfusions and iron chelation therapy. The disorder is prevalent in regions such as the Mediterranean, Middle East, South Asia, and Southeast Asia. Advances in molecular diagnostics, including PCR and non-invasive prenatal testing, have significantly improved early detection and treatment outcomes. Screening and prevention programs in high-risk areas have reduced the number of affected births. The use of artificial intelligence in specific diagnostic areas, particularly in managing iron overload, is also being explored to enhance patient care. This chapter covers the genetic structure, clinical manifestations, diagnostic methods, and iron overload management in Beta Thalassemia Major.