Abstract

What and why you need to know about beta thalassemia: A genetic disorder

Author(s): Nitu Nigam*, S P Verma, Swati Sinha, Kirti Upadhyay, Sanjay Nigam, Vimala Venkatesh, Soniya Nityanand

Thalassemia is a genetic disorder. Now a day’s beta thalassemia is becoming quite prevalent all over the world. The prevalence rate is varied in the different state of India. Beta (β)-thalassemia is of three types. The beta thalassemia major, minor and inter-media. The beta Thalassemia major patients have to be dependent on regular blood transfusion to sustain life. Only BMT (Bone Marrow Transplantation) is the cure for these patients which are costly in the developing country. The condition significantly impacts patient quality of life and imposes substantial healthcare costs, exceeding 1 lakh INR annually for treatment and management.

The role of genetic factors, such as polymorphisms in MTHFR, prothrombin and Factor V Leiden, has been studied extensively, although results remain inconclusive. Societal factors, including the rise in inter-caste marriages without genetic screening, contribute to the increasing prevalence of thalassemia. Preventive measures, such as pre-marriage, antenatal and neonatal screening, are essential for early detection and management. Universal implementation of such screenings, as practiced in countries like Greece and Italy, has significantly reduced disease incidence.

India has initiated measures, such as free carrier screening, blood transfusions, and HPLC testing, particularly in states like Uttar Pradesh. However, integrating affordable and accessible Point-of-Care (POC) diagnostic tests is crucial for timely intervention. Comprehensive efforts combining governmental policies, genetic counseling, and public awareness are vital to combating this genetic disorder.

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