Dr Satya Prakash Yadav, Senior Director, Paediatric Bone Marrow Transplant Medical Oncology, Medanta Gurgaon
Thalassemia is a condition that impairs the body’s ability to produce red blood cells, which results in patients needing regular blood transfusions for survival.In severe cases, this condition can also be fatal. The blood disorder is inherited – both parents need to be carriers of the gene mutation – and is highly prevalent in Indiaand is particularly rampant in North-East India – especially in Assam and Manipur.
People, who inherit the gene from only one of their parents are called “carriers” or are said to be affected with “thalassmia minor” — they do not suffer from any disease, but can transmit it to the next generation. Keeping this in mind, the Maharashtra government recently announced that it will soon frame rules to make testing for thalassemia mandatory for people for marriage, in an attempt to eradicate the disease. While this effort is laudable, we can go much beyond: make testing for the disorder compulsory at birth.
People who inherit the mutated gene from both parents suffer from “thalassemia major”, and approximately 10,000 infants born in the country every year are diagnosed with this condition. Considering the regular blood transfusions and iron chelation therapy, among other treatments that patients must regularly go through, the disorder imposes emotional and financial burdens on families. Certain procedures such as Bone Marrow Transplant (BMT) and advances in gene therapies can potentially reduce the need for lifelong transfusions for those suffering from this congenital disorder.
However, a lack of awareness, coupled with challenges due to limited resources and access to treatment, have led to many children remaining undiagnosed or untreated.
Screening for gene the way forward
India has the largest number of children with thalassemia major in the world, and it is estimated that approximately 30 million people are silent carriers of the gene disorder. The burden is especially skewed in North-Eastern states.
This disease requires frequent blood transfusions, and these periodic transfusions can also lead to other complications such as the presence of too much iron in the blood. Patients are also at risk of infections transmitted through transfusion such as Hepatitis unless appropriate blood screening and safety practices are in place.
It must be noted that North East India, though a region rich with cultural diversity, has long been underserved with respect to heath care services. As large parts of the population live in geographically remote regions, they have limited access to specialized care.Recent advancements, such as BMT and emerging gene therapy, are doing away with the need for lifelong blood transfusion in patients suffering from thalassemia. However, the disease continues to pose a serious public health challenge.
All children deserve the opportunity to live a healthy and fulfilling life. Bone marrow transplant provides a transformative cure for thalassemia, making it crucial for doctors, healthcare providers, policymakers, and the public to join forces—raising awareness, addressing misconceptions, and fostering a supportive environment for bone marrow transplants.
With this in mind, there is an urgent need to screen toddlers and young children – either for the disease, or to check whether they are carriers.This process, done through blood tests, can help identify whether the child in question has the thalassemia gene. Counselling later in life will help inform couples about the risk and allow them to make an informed choice.To be sure, such a screening programme does exist in India, but it is optional, which results in most people disregarding it. However, if we want to eliminate this disease, we must ensure that this screening processis pan-India and compulsory. It can either be integrated with the screening of other birth defects, or could be aligned with mandatory vaccines, so that each child goes through the procedure.
Screening of the foetus can also be done at the antenatal stage, so that parents are informed about the risks to the health of their unborn child, and can take a choice accordingly. Through these collective efforts, we can save countless lives and significantly improve the health outcomes for thousands of children affected by thalassemia.