Why do you think thalassemia and sickle cell disease should be a public health priority in India?
Thalassemia and sickle cell anaemia is a preventable genetic blood disorder. The data says 10-12 thousand children are born every year with thalassemia. Sickle cell anaemia patients are more prevalent in tribal communities and also non-tribal communities. They have to be diagnosed early for proper treatment to avoid the disability of sickle cell anaemia. These diseases should be made mandatory or at least optional in the National Public Health Programme. Also, gynaecologists, obstetricians and all maternity hospitals should offer HbA2 tests to all the antenatal women in the first trimester. The treatment of these disorders is costly and lifelong. So prevention is better than cure and this can be possible only if these diseases become a public health priority in India.
Can you tell us about the inequalities when it comes to thalassemia treatment and care within India. What can be done to ensure consistent thalassemia treatment and care across India?
National Health Mission (NHM) made the guidelines and policies for the management of Haemoglobinopathies in 2016. If the treatment part is taken by the Central Government like Leprosy and TB control programmes then the treatment would be uniform. Health being a state subject, the policies and guidelines for this disease have to be implemented by states. There is an inequality in the thalassemia treatment and care in India, to bridge this nearly 90 societies in India are working towards the care of thalassemia children either in their societies or in collaboration with local governments.
Bone Marrow Transplant (BMT) is not affordable for all thalassemia patients. What are the alternatives we have for thalassemia patients? What is the status of CRISPR Gene therapies and new drugs like luspatercept?
BMT is not affordable for many patients as it requires a sibling matched HLA donor or Haplo matched donor or it can be done with a matched unrelated donor. Expertise is required for BMT which can’t be done in every place and more tertiary centres are required for BMT. Alternative to BMT is conventional treatment with blood transfusion once in 2-3 weeks and iron-chelating drugs. The status of the CRISPR Gene is quite successful in in-vitro dish experiments. Now they are going to make this possible in animal models. Once it is successful then it will be done in Thalassemia patients. The cost will be an issue but besides cost, all the thalassemic patients get an option to be cured of Thalassemia and sickle cell anaemia. As for Luspatercept, it is found to be a promising drug. It delays the blood transfusion so that it reduces iron overload. But the cost is the big factor. Affordability is a big challenge as I said earlier if it is a government-run programme by Central Government like Leprosy and TB control programme, we can make India free from thalassemia and sickle cell anaemia like how other countries have controlled like Cyprus, Sardinia, Taiwan & Iran.
Can you tell us why an antenatal – HbA2test should be made mandatory for the expectant mother in the first trimester and how it helps to rule out genetic defects of the foetus?
Antenatal test HbA2 in the first trimester of pregnancy is very important. As thalassemia and sickle cell anaemia is preventable genetic blood disorder if both the carriers get married then in every pregnancy, there is a 25 per cent chance the child will be a thalassemia and sickle cell anaemia patient. And 75 per cent chance the expectant mothers can continue the pregnancy. And it is ethically approved that a mother with an affected foetus can terminate the pregnancy. Many countries — Cyprus, Sardinia, Taiwan & Iran with the National programme screening of antenatal women in the first trimester for haemoglobinopathies have brought down the thalassemia birth rate to near zero per cent.
What are the various initiatives taken by Thalassemia and Sickle Cell Society (TSCS) to address the burden and build awareness about the disease?
Right from awareness on thalassemia and sickle cell anaemia in various platforms like conducting CMEs for doctors, talk at schools, colleges, MNCs and blood donation camps etc. TSCS also conducts counselling for patients’ parents and extended families who are registered with us. Also, advocate the importance of HbA2 tests before marriage or early pregnancy and we conduct free HbA2 tests. We recently organised a national conference on the prevention of thalassemia for all the societies in India.