Thalassaemia: An Overview of Pathophysiology, Diagnosis, and Management

Abstract

The β-globin chain of haemoglobin is encoded by the HBB gene. Ineffective erythropoiesis, severe anaemia, and progressive iron overload are caused by an imbalance between α- and β-globin chains. Blood transfusions and iron chelation therapy are examples of conventional management techniques that have greatly increased survival; however, they are linked to a number of complications, such as organ toxicity, restricted accessibility, and low compliance. Because of their diverse biological activities, including antioxidant, iron-chelating, hepatoprotective, and foetal haemoglobin (HbF)-inducing qualities, phytocompounds have become promising therapeutic substitutes in recent years. With a focus on formulation development and therapeutic evaluation, this review examines the genetic and clinical basis of β-thalassemia, the limitations of current treatments, and the potential role of bioactive compounds derived from plants in its management.