Thalassemia: A lifelong battle with hemoglobin deficiency

Kushwaha, Madhu and Orozalievich, Turdaliev samatbek and Rasheed, Ansy Abdul and kushwaha, Gaurav and alom, Asraful and rehman, Mohammad ubaid ur and afridi, Shahid and chautmal, Akshay parasram (2025) Thalassemia: A lifelong battle with hemoglobin deficiency. World Journal of Biology Pharmacy and Health Sciences, 21 (1). pp. 323-334. ISSN 2582-5542

Thalassemia is a heterogeneous group of inherited disorders of haemoglobin caused by reduced or absent production of one or more of the globin chains. They are the commonest single gene disease worldwide. The disease was first described by Thomas Cooley (a paediatrician from Detroit, USA) in 1925. the two common types, majority of β thalassaemias are caused by point mutations, while most of the α thalassaemias result from gene deletions.The resulting imbalance in globin synthesis is responsible for the ineffective erythropoiesi sand hemolysis typically observed in the thalassemia syndromes.About 3.2 % of the world’s population (152 million people) carry β-thalassemia genes.The initial symptoms of the disease appear in the latter half of the first year of life, when the synthesis of γ-chains is not replaced by the synthesis of β-chains.The improved survival of patients with thalassemia major has been attributed to improvement in transfusion therapy, better understanding of mechanisms of organ damage from iron, more effective iron chelation, the availability of magnetic resonance for the evaluation of cardiac iron overload, and the referral of patients to centers of excellence.