Dr Gaurav Kharya, Director-Centre For Bone Marrow Transplant & Cellular Therapies, Indraprastha Apollo Hospital, Delhi talks about thalassemia management in India and road ahead
In India, around 10,000 children are born with thalassemia, a genetic disorder that impairs the body’s ability to produce enough red blood cells. This contributes to a significant burden of over 150,000 patients, making India the country with the highest number of children suffering from thalassemia. Unfortunately, unlike developed nations, most of these children in our country have a poor quality of life due to the lack of systematic blood transfusion therapy and improper chelation practices.
When it comes to managing thalassemia, we need to focus on two key aspects. Firstly, prevention is crucial to reduce the burden of the disease. Secondly, we need to provide early diagnosis and timely treatment for those who are already suffering.
Prevention is both possible and simple. Thalassemia occurs when there is a defect in the HBB gene cluster, and it is only passed on to a child when both parents carry the faulty genes. Countries like Greece have successfully reduced the number of Thalassemia cases over the past decade through premarital counselling and prenatal screening. Unfortunately, India lags behind in implementing these necessary preventative strategies, particularly in prenatal screening. Even in major cities across the country, prenatal screening is often overlooked or inconsistently applied.
Many health centres, especially those outside of metropolitan areas, do not routinely use the High-Performance Liquid Chromatography (HPLC) test, which is crucial for early detection during the first trimester of pregnancy. Additionally, timely diagnosis in India presents significant challenges. While the technology for simple diagnostic tests, such as electrophoresis and HPLC, exists, these tests are not readily available across the country as point-of-care tests. This is unfortunate because about 90% of Thalassemia cases can be diagnosed by the age of five to six months.
If diagnosed early, the disease and associated complications can be managed much more effectively. Only in rare complex cases, such as the co-existence of alpha and beta thalassemia or thalassemia with sickle cell disease, does the disease manifest at a later age, usually around four to five years, resulting in delayed diagnoses. These children require regular blood transfusions to address their deficiency of red blood cells, which are critical for the proper functioning of all organs in the body.
Red blood cells carry oxygen to cells, which is essential for organ development and function. However, the state of transfusion services in the country complicates the situation. Despite some government initiatives to improve blood transfusion services, the majority of transfusions in India do not meet optimal standards. Most children receive full blood transfusions of packed red cells which are not leuco-depleted, which increase the antigenic load and the risk of subsequent complications. These suboptimal practices not only increase the risk of transfusion-related reactions but also raise the likelihood of infections from blood-borne pathogens.
Another significant concern is iron overload. Poorly managed transfusions result in excessive iron build-up in vital organs. Iron chelation is an integral component of thalassemia care. Unfortunately, these chelators are often unavailable or inadequately supplied, particularly in rural and peripheral areas. Additionally, maintaining a baseline hemoglobin level of 9 to 10 is essential for optimal organ function and overall growth. However, many healthcare providers mistakenly believe that transfusions at lower hemoglobin levels are sufficient, leading them to transfuse at levels as low as 6 or 7. Transfusing at these low haemoglobin levels also causes the body to absorb higher levels of iron, resulting in iron overload.
Excessive iron accumulation in organs such as the heart, liver, kidneys, pancreas, and joints can cause damage, organ dysfunction, and even chronic diseases like diabetes.
The risks associated with transfusions should not be underestimated. Inadequately tested blood supplies can transmit diseases such as Hepatitis C and HIV. All blood supplies in all parts of the country must be tested using Nucleic Acid Testing (NAT) to detect these viruses.
In Western countries, thalassemia management with regular and efficient transfusions allows patients to lead normal lives for 50-60 years. However, in our country, children often face complications due to inadequate and ineffective treatment by their second decade. The robust transfusion system and support therapies in Western countries make bone marrow transplant as an alternate option.
In India, bone marrow transplant, a potential cure for thalassemia, isn’t the preferred treatment due to its high cost and procedural complexity. Only tertiary care centers can perform these transplants, requiring proper infrastructure, skilled physicians, and supportive care. Although newer technologies and treatment strategies have improved outcomes even for partially-matched or unmatched transplants, facilities must be well-equipped. Unfortunately, in India, high-resolution HLA typing facilities, which is a prerequisite for transplants, are difficult to get in the public sector.
India urgently requires a comprehensive approach through public-private partnerships to tackle these challenges. Such collaborations can help establish standardised screening practices, improve transfusion services, ensure the availability of essential medications, and enhance the infrastructure required for advanced treatments, such as bone marrow transplants.
Although funding is not the main obstacle, it should be strategically allocated to develop these capacities and educate the public and healthcare providers about thalassemia. Investing in healthcare infrastructure is crucial for improving individual outcomes and reducing the overall burden of thalassemia on the Indian healthcare system.
Moving forward, India should adopt successful practices from other countries while also developing innovative solutions tailored to its unique demographic and geographic challenges. By doing so, India can shift its approach to thalassemia from crisis management to proactive, comprehensive care, and prevention. This is not just a healthcare imperative but also a moral duty to ensure that future generations are healthier and free from the burden of preventable diseases like thalassemia.