Thalassemia: An Overview of Genetics, Pathophysiology and Management

Abstract

Thalassemia is a group of inherited haemoglobin disorders resulting in reduced or absent production of one or more globin chains, leading to chronic anemia and multisystem complications. It significantly impacts quality of life and places a burden on healthcare systems, especially in regions where it is endemic. The clinical spectrum ranges from asymptomatic carrier states to severe transfusion-dependent disease. Advances in blood transfusion practices, iron chelation therapy, stem cell transplantation, and emerging gene-based treatments have substantially improved outcomes. This review discusses the introduction, classification, pathophysiology, management, and future directions of thalassemia.
Thalassemia is a genetically inherited blood disorder characterized by reduced or absent production of globin chains, leading to an imbalance in haemoglobin synthesis and chronic anemia. The disease is marked by ineffective erythropoiesis, increased red blood cell destruction, bone marrow expansion, and iron overload, which collectively contribute to progressive organ damage. The severity of thalassemia varies widely depending on the type and number of affected globin genes. Regular blood transfusions remain the cornerstone of treatment for severe forms; however, transfusion-related iron overload necessitates long-term chelation therapy. Curative approaches such as hematopoietic stem cell transplantation and novel gene-based therapies have emerged as promising treatment modalities. This review discusses the molecular and cellular mechanisms underlying thalassemia, along with current and emerging treatment strategies aimed at improving long-term outcomes and quality of life.