Why Thalassemia Continues To Remain A Challenge In India

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.

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.

Challenges faced by Thalassemia patients during the COVID-19 pandemic

COVID-19 pandemic was a doubly precarious time for thalassaemia patients. Not only are thalassemics at a higher risk for COVID-19, arranging blood transfusion was extremely difficult for some. There have been multiple accounts about patients and caregivers facing difficulties arranging for donors, availing treatment, or organizing blood donation camps. With many scared of donating blood during the pandemic, there was a supply shortage which made patients fear for their lives. The supply disruptions only aggravated challenges which already marr the timely and steady availability of blood transfusion services. There's a stringent need for authorities to roll out nationalized awareness campaigns and ensure patients get their basic needs covered, including access to safe and quality blood transfusions.

Ensuring access to safe quality blood: Where does India stand?

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 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 amp 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.

The way forward to improving Thalassemia care 

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.

(Dr Renu Saxena, Director, Path and Lab Medicine and Head, Hematopathology,Medanta,The Medicity, Gurgaon)