Nishtha Madan was diagnosed with thalassaemia when she was seven months old. “I wanted to overcome the limitations attached with the disease,” says Madan, now 35, and a special educator and development psychologist with the department of education, Delhi. “The credit of keeping me healthy goes to my parents. When I became an adult, I started trying to make myself more aware of the disease.”
Thalassaemia is a genetic blood disorder characterised by the reduced production of haemoglobin, the protein in red blood cells that carries oxygen throughout the body. It results in anaemia and can lead to severe health complications. Official figures say that there are nearly one lakh thalassaemia patients in India, with 10,000-15,000 new cases reported annually.
The country has one of the highest prevalence rates in the world, with regions such as Punjab, Gujarat and parts of the northeast showing particularly high carrier rates. “The situation is pretty bad in peripheral areas where awareness is low,” says Dr Piyasi Basu Thal, a thalassaemia-major patient herself. Thalassaemia-major, the most severe form of the disorder, requires regular (two-three weeks) blood transfusions to manage symptoms and prevent complications. “It is like we are sitting on a volcano all the time,” says Namitha Kumar, 46, who was diagnosed when she was four.
While the psychological burden of thalassaemia is telling, the economic cost is also significant. “Although thalassaemia is listed as a disability, there is no benefit for the patients. The government needs to bring reservation in education and employment for thalassaemia patients,” demands Madan.
Kumar, who has a PhD from the National Institute of Advanced Studies in Bengaluru, agrees. “Despite paying taxes, I get no financial support from the government,” says the academic who works with Opford, a platform for rare diseases. “I can afford health insurance but there are several others who cannot.”
Dr Aseem Kumar Tiwari, director, transfusion medicine, Medanta Hospital, says, “NAT (nucleic acid testing) comes at a cost and therefore its availability is more in the private sector.”
Policy interventions become all the more important with the carrier rate being so high in India because of the presence of several ethnic groups with varying levels of genetic predisposition. Lack of awareness and access to services exacerbate the situation. “Being a doctor myself, I have seen that professionals from my own fraternity are poorly informed about thalassaemia. The situation is worse in rural areas where awareness is alarmingly low,” says Thal, who works as a senior resident in the neurology department at PGIMER, Chandigarh. While urban centres are equipped with advanced treatments and regular blood transfusions, rural areas face challenges such as lack of medical facilities, and inadequate and unsafe blood supply. “There are fragmented guidelines when it comes to thalassaemia,” says Dr Rasika Dhawan Setia, director and head of department, transfusion medicine, BLK-Max Super Speciality Hospital, Delhi. “The attitude in rural areas is casual, which should not be the case as lives are equally important everywhere.”
Adds Thal, “NGOs, government bodies and community organisations should educate the public about thalassaemia, its genetic basis, and the importance of carrier screening.”
Former Union health secretary Apurva Chandra had said on International Thalassaemia Day, on May 8, this year: “Many people are still unaware of this disease and how this can be prevented. It is imperative that all stakeholders in this arena collaborate for a nationwide campaign to enhance awareness.”
Experts say that management of thalassaemia requires a well-coordinated health care infrastructure that includes blood banks, diagnostic facilities and treatment centres. The most crucial aspect, however, is the availability of safe blood. Referring to a case in Uttar Pradesh last year where 14 children undergoing blood transfusions tested positive for infections like hepatitis B, C and HIV, Madan says, “Blood safety is a major issue. There should be a standardised procedure for blood safety. All blood banks must ensure that only safe blood is provided to patients.” She also suggested penalties if anyone is found violating the rules and regulations in blood supply.
Adds Anubha Taneja Mukherjee, member secretary, Thalassemia Patients Advocacy Group: “There are four types of blood a patient is expected to get: profile-matched blood but without NAT testing, NAT-tested but without profile-matching, neither of the two and in some cases whole blood. That is the level of discrepancy.”
Technologies like NAT have come as a respite in ensuring safe blood for transfusion. NAT enables the screening of donated blood to reduce the risk of transfusion transmitted infections (TTIs) in recipients. “NAT can detect HIV, hepatitis B and C, syphilis and other pathogens in the window period, while other tests like ELISA and antigen cannot,” says Dr Ashok Yadav, head of department, transfusion medicine, MGM College, Indore. “Blood screening through non-NAT tests is not safe and blood banks should use NAT.”
Yadav welcomes the hub and spoke model being contemplated by the Centre. “We are implementing the model in our district as per which NAT-tested blood at our centre is distributed to blood banks in the periphery, ensuring that only safe blood reaches the patients in rural areas,” says Yadav.
A paper published in 2021 noted, “Technological advances have made blood safer for transfusions and adopting NAT in a resource-limited setting and a developing country such as India could impact blood safety in a big way.”
On the cost aspect, too, Tiwari is hopeful. “While the availability of NAT-tested blood is more in the private sector, there is no reason why the government sector cannot adopt NAT-tested blood as exemplified by states like Odisha in the recent past,” he says. “Also, its wide adoption will automatically bring down the costs.”
The Centre has taken steps to address the thalassaemia burden through various initiatives. The thalassaemia control programme aims to provide comprehensive care, including regular blood transfusions and other supportive treatments. As India has the largest number of children with thalassaemia major, the health ministry has been running a Thalassemia Bal Sewa Yojana since 2017. The ministry recently advocated inclusion of compulsory thalassaemia testing in the existing reproductive and child health programmes under the National Health Mission.
However, experts and patients expect the government to do more. “It is the government’s duty to provide us safe blood and it can only be done through a stringent regulatory framework,” says Mukherjee. “The government cannot leave our safety to the whims and fancies of 3,000 blood banks.”
The thalassaemia situation in India is both challenging and hopeful. By continuing to focus on prevention, treatment and support, India can make substantial strides toward improving the lives of patients and ultimately reduce disease burden.
While a combination of government efforts, health care providers and NGOs can lower the burden, patients themselves are driving the change. “I was an active and explorative child,” says Madan. “As I grew I did not let thalassaemia affect my decisions. Through awareness about the disease, I figured out how to strike a balance between ambitions, health and relationships.”
Adds Kumar: “We have suffered the impact of thalassaemia throughout our lives. It becomes our responsibility now to empower others to make their lives better.”
For the first time, India Gate turned red on International Thalassaemia Day this year to show solidarity with the patients. “We did it,” wrote a group of thalassaemia patients on X. It is an optimistic beginning for thousands of patients who are courageously fighting for what they truly deserve.