Thalassemia

Thalassemia is a group of inherited hemoglobin disorders caused by reduced or absent synthesis of globin chains, leading to ineffective erythropoiesis and chronic anemia. The condition ranges in severity from asymptomatic carrier states to transfusion-dependent disease. Patients with severe forms often present early in life with anemia, growth retardation, bone deformities, and iron overload due to repeated transfusions. Advances in screening programs and genetic counseling have significantly reduced disease incidence in high-risk populations. Diagnosis involves hematological evaluation, hemoglobin analysis, and molecular testing to identify specific mutations. Management strategies include regular blood transfusions, iron chelation therapy, and supportive care. Curative approaches such as hematopoietic stem cell transplantation and emerging gene-based therapies have shown promising outcomes. Ongoing research aims to improve quality of life, reduce treatment-related complications, and expand access to curative therapies, particularly in low-resource settings where thalassemia remains a major public health challenge.