World Thalassemia Day is being observed every year on 8th May to honour the struggles of patients suffering from thalassemia as well as to make people aware of the disease and its symptoms. With India's varied demographic comes a heavy disease burden, including some genetic disorders. Thalassemia, a genetic blood disorder is one rare disease still prevalent here. It is an inherited disease characterised by faulty haemoglobin synthesis and RBC production in the body, meaning that a thalassaemic patient would require long-term blood transfusions to sustain life. With an estimated 42 million beta-thalassemia carriers and 10,000 new cases reported each year, one in eight patients reside in India. The number also runs high in the paediatric population. Among the 27 million births happening each year, it has been suggested that there would be more than 10,000 kids with thalassemia major, which is easily preventable.
India bears a huge burden of hemoglobinopathies, and the most prevalent is thalassemia. The different types of thalassemia include minor, major and intermedia, based on the α/β-globin chain inequality. As per the reports of M.HFW, GoI, the prevalence of β-thal trait in Central India ranged between 1.4 and 3.4%, while 0.94% β-TM was reported among the patients with anemia. In South India, the prevalence of β-thal trait was between 8.50 and 37.90% and β-TM was reported to be between 2.30 and 7.47%. Northern and Western Indian states had a higher thalassemic burden. In Eastern India, tribal populations had a higher prevalence of β-thal trait (0.00-30.50%), β-TM (0.36-13.20%) and other hemoglobinopathies [Hb E (HBB: c.79G>A)/β-thal] (0.04-15.45%) than nontribal populations. Additionally, scheduled castes, scheduled tribes and other backward classes of low socioeconomic status and low literacy rates were affected by β-thal. Almost all Indian states reported β-thal; however, it is mostly concentrated in eastern and western parts of the country. Well-integrated strategies and effective implementation are needed at State and National levels to minimize the burden of β-thal.
Despite the alarming rise, preventive and awareness strategies cut a sorry figure. Poor awareness is one of the reasons as to why India sees many including children go undiagnosed till long. Many do not even learn of their status as a thalassemia carrier until ‘unintentionally' passing on the faulty gene to their children, who end up getting sick. For a disease with high therapy costs, it is poor awareness and education that continues to make the problem challenging in these times.
Quality of blood is of critical importance, as unsafe blood can lead to transfusion-transmitted infections and mortality. There have been concerns raised over poor safety of blood transportation and lack of testing in India. Despite many blood donation drives, patients and blood donators ‘history and prior illness record aren't factored in. Most donors are one-time voluntary donors and there is hardly any concept of repeated blood donation that can ensure continuity of blood bank services. This makes it perilous for thalassemia patients to get access to safe, quality blood from banks.
Another challenge is upgrading our testing and screening mechanisms. Most blood banks use ELISA (enzyme-linked immunosorbent assay) to screen for past infections, as is directed by the Central Drugs Standard Control Organisation (CDSCO). However, infection traces can often be missed by delayed test timings. Disparity in access and adoption of modern technology, up-to-date testing methods can hinder quality of donated blood, and increase risk of infections for the patient. Therefore, with an increased stress on blood donation, India also needs to ramp up on the adoption of modern testing strategies to standardize safety and quality of transported blood with respect to Thalassemia management, such as the adoption of molecular NAT (Nucleic acid testing), considered to be gold standard in UK and US.
Therapies for thalassemia management not only cost a lot, but they are also needed lifelong to sustain life. Hence, quality and safety of blood samples cannot be compromised on. To be on par with global standards of acceptance and care management, India needs to increase adoption of new age testing technologies and screening methods. Besides, access to safe quality blood is in accordance with the legislation on rights of people with disabilities. Hence, every effort must be to ensure that transported blood is safe and infection-free. The use of NAT, currently available only in a few states should be endorsed nationwide. Lack of a central nodal body managing blood bank services further complicates the issue with different states following their own mandates. For instance, Madhya Pradesh, Odisha and Jammu & Kashmir are the only three states so far who have adopted best-in-class Nucleic Acid Testing technology (NAT) screening technology at government-run blood banks. It is much safer, and stronger than serology tests and brings down infection risks in by a huge percentage. Experts also stress on the incorporation of safe blood practices such as the use of antigen-matched blood transfusion and promote pre-natal screening.
Going further, it needs to be remembered that the root to fighting thalassemia remains in prevention, and not just management. Community-centric awareness should be advanced further. Ante-natal testing should also be promoted to evade risks and identify complications at the earlier. Specialized clinics and counselling centres should be set up across states to focus on disease management. For this, gynaecologists, physicians, ASHA workers, pre-marital counsellors and other stakeholders must be involved to improve prevention plans and provide guidance to families.
—Prof. Sunil Goyal
Author is an Eminent Social Scientist, Columnist, and presently posted as Dean and Chairman – Board of Studies at Dr. B. R. Ambedkar University of Social Sciences, Dr. Ambedkar Nagar (MHOW), Madhya Pradesh