Thalassemia: A comprehensive review of the genetic disorder

Saware, Umesh S. and Barewar, Supriya S. and Bakal, Ravindra L. and Hatwar, Pooja R. (2025) Thalassemia: A comprehensive review of the genetic disorder. GSC Biological and Pharmaceutical Sciences, 31 (1). pp. 116-130. ISSN 2581-3250

Thalassemia is a group of inherited blood disorders affecting haemoglobin production. It's the most common form of inherited anaemia worldwide. The two main types are alpha and beta thalassemia, caused by defects in alpha or beta globin chain synthesis. This leads to anaemia, impaired red blood cell production, and other complications. Beta thalassemia has three forms: carrier state, thalassemia intermedia, and thalassemia major, a severe anaemia requiring regular transfusions. Advances in genetics and haemoglobin structure understanding have improved diagnosis and treatment. Management involves carrier detection, genetic counselling, prenatal diagnosis, and transfusions. Haemoglobin electrophoresis and genetic testing help diagnose and confirm thalassemia subtypes. The severity of alpha and beta thalassemia varies, with some forms requiring only monitoring and others needing transfusions. Overall, thalassemia requires comprehensive management to prevent complications and improve quality of life.