Abstract
Introduction
Thalassemias are common genetic disorders in the Indian subcontinent.[1] Thalassemia major is the severe phenotype which requires lifelong transfusions and bone marrow transplantation is the only curative option available.[2]
Approximately 7% of the world’s population is a carrier for hemoglobin disorders with 300,000–500,000 births every year with the severe heterozygous form of disease.[3] Beta thalassemia is the commonest inherited hemoglobin disorder in the Indian subcontinent with an uneven distribution among the different endogenous populations. There are an estimated 200 million carriers of the β-thalassemia gene worldwide, 20 million being in India.[2] Carrier frequency ranges between 3.7 and 10%[4].
Anemia is the most common clinical presentation of thalassemia. Depending upon the type of the disease and varying severity of anemia, thalassemia further classified into transfusion dependent thalassemia (TDT) and non-Transfusion dependant thalassemia (non-TDT). The TDTs require regular blood transfusion to survive. Without adequate transfusion, they would suffer several complications and a short life span.[5]
Patients of above categories, need regular blood transfusion. The recommended treatment for thalassaemia major and some form of Eβ-thalassemia requires lifelong regular blood transfusions, usually administered every two to five weeks. The goal is to maintain the pre-transfusion haemoglobin level above 9-10.5g/dl. This transfusion regimen promotes normal growth, allows normal physical activities, suppresses bone marrow activity in most patients and minimize transfusional iron accumulation.[5]
Iron deposition in parenchymal tissues begins within 1 year of starting the regular transfusions.[6,13] The iron burden in the body can be estimated by means of the serum ferritin, serum iron, and total iron binding capacity levels. The estimation of serum ferritin level is the most commonly employed test to evaluate iron overload in these patients.
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Corresponding Author
Dr Soumik Ghosh
DOI: https://dx.doi.org/10.18535/jmscr/v5i11.227
