World Thalassemia Day is being observed today to spread awareness about this inherited blood disorder. Due to the lack of awareness about the disorder and accessibility to necessary treatment, more than one lakh children succumb to thalassemia before they turn 20 years of age.
Challenges in diagnosing thalassemia
Due to the lack of awareness about the genetic blood disorder several cases go undetected. Another challenge is the availability of genetic tests and specialised centres across the nation for couples who are unaware of their genetic condition and there is also a lack of awareness amongst general doctors and general practitioners.
“To begin with, there is a widespread lack of awareness about thalassemia, not just among the general population but also among general doctors and general practitioners. So, if a child in his or her first year develops severe anaemia, several blood transfusions are frequently administered without attempting or achieving a diagnosis. Once the patient has been transfused many times, the diagnosis gets a little more challenging because then one has to test the parents and perform genetic tests. The non-availability of tests is another significant challenge. Though the basic test is available in most large cities and towns, it is not available in many smaller towns and villages. Patients in these locations frequently go undetected for long periods. The genetic tests are available only in a few specialised centres in the country,” said Dr Farah Jijina, Consultant, Clinical Haematology, PD Hinduja Hospital and Medical Research Centre, Khar.
The majority of the cases are detected post the birth of the child. This poses a challenge as treatment costs for thalassemia are very high and there is a disparity in specialised centres for thalassemia patients across the country.
Dr Santanu Sen, Consultant, Paediatrics, Paediatric Haematology, Oncology & Stem Cell Transplantation, Kokilaben Dhirubhai Ambani Hospital, Mumbai, shared, “Most thalassemia patients present at about 4-6 months of age with poor feeding, weight loss, lethargy and severe anaemia. In such cases, an HPLC test can be diagnosed in most cases. However, sometimes a child might be too unwell when they come to the doctor, who may have to give an urgent life-saving transfusion. In such cases, an HPLC test may not be helpful and we suggest the test on both parents to check if both are thalassemia carriers, which makes the child being thalassemic a high possibility. But finally, a DNA test looking at the common genetic abnormalities that are found in thalassemia can be diagnostic and confirmatory.”
Curing thalassemia permanently
Thalassemia can be cured permanently but treatment costs remain very high and out of reach of the general population. “Bone marrow transplant (BMT) is the only curative treatment for thalassaemia. If done at the right age and with a perfectly matched donor, the results are excellent. It is expensive but there is a lot of support available from the government, and support groups. If we add the total cost of care of a thalassemic patient, BMT is the cheaper option. Under the Govt of India and Coal India collaborative project, N amount of Rs 10,00,000 can be granted for a matched family donor transplant. There are PMRF and CMRF and also other avenues of support, shared Dr Amita Mahajan, Sr Consultant, Paediatric Haematology, Oncology, Indraprastha Apollo Hospitals.
Not all healthcare providers are equipped to handle the complex procedures for treating thalassemia and the centres that specialise in stem cell therapies and BMT are mostly congregated in tier-I cities. “The most important factor is that treatment in private facilities is too expensive. As a result, the government must establish properly trained and well-staffed centres in government hospitals with all of the necessary facilities. These transplant centres at government hospitals should be fully staffed, including medical, nursing, technical, and laboratory personnel. All of them should have transplant training and experience. Only by establishing such permanent centres would it be possible to reduce treatment expenses and increase accessibility,” mentioned Dr Jijina.
Sharing his views Dr Sen commented, “BMT remains the only permanent cure for thalassemia. Gene therapy is a very promising new modality of curing thalassemia and should become more readily available over the next few years. Till then, a BMT is the only known permanent cure, though due to the complexity and long treatment process, it is very expensive.”
“Thankfully, Coal India Limited in partnership with the Ministry of Health & Family Welfare (MoHFW) and Thallasemic India has started a groundbreaking initiative known as Thalassemia Bal Sewa Yojana (TSBY) under which nine hospitals nationally will be providing BMTs to thalassemia patients under the age of 12 years, at no cost to the families. Kokilaben Dhirubhai Ambani Hospital is the only hospital in Western India to be part of this initiative for free transplants and having done over 50 thalassemia transplants, are very keen to cure many more such patients of their disease,” added Dr Sen.
Since the disorder is preventable, there is a need to prevent newer cases of thalassemia amongst newborns. “Prevention is the key to reducing the thalassemia burden and progressively eliminating the disorder. Prevention of new cases is the need of the hour. To ensure a successful prevention program, all stakeholders- obstetricians, paediatricians, patient advocates, support groups and most importantly the policymakers and government need to come on board. It will require a broad-based awareness programme, timely and accurate screening of pregnant women and access to prenatal diagnosis and counselling services.
The precise framework will vary from state to state. A multi-stakeholder collaborative project is being proposed in Delhi and we look forward to this being rolled out,” opined Dr Mahajan.
Prevention holds the key to eliminating thalassemia. There is a need to raise awareness about the condition. “A thalassemia major child is born when both parents have thalassemia minor. As a result, all pregnant women in their first trimester should be tested for thalassemia minor. If they have thalassemia minor, then their partners should be tested too. If both parents have thalassemia minor, perform prenatal testing during the first trimester to determine if the infant is a major or not. If both parents have thalassemia minor, the child has a 25 per cent risk of having a thalassemia major. The challenge is that prenatal testing is done only in a few centres in the country. It is therefore essential to set up more centres capable of carrying out these tests precisely and appropriately,” shared Dr Jijina.
She further added, “The other thing is that very often people know that they have minor thalassemia, but they hide the fact because they feel there’s a stigma. It is extremely important to raise awareness that there is no shame associated with being a thalassemia minor. Patients with thalassemia minor have no additional issues and live a completely normal life. So it is not a stigma and should not be hidden.”
Awareness can eliminate thalassemia
Newer cases of thalassemia can be reduced and eliminated through a collaborative and systematic approach. “Spreading awareness on thalassemia via various platforms like conducting CMEs for doctors, talk at schools, colleges, MNC’s and blood donation camps etc. Thalassaemia and Sickle Cell Society (TSCS) conducts counselling for patients’ parents and extended families who are registered with us. Advocating the importance of HbA2 tests before marriage or early pregnancy and making HbA2 tests available across the nation can help rescue the cases of thalassemia,” remarked Dr Suman Jain, CMRO, Secretary, TSCS, Hyderabad.
Thalassemia can be cured permanently but treatment costs remain very high and the only cure currently is BMT. Preventing the condition will benefit all parties involved as it reduces treatment costs and the trauma that the patient and parents have to go through. Spreading awareness amongst the healthcare providers as well as the masses will not only reduce the burden of thalassemia but also eliminate the cost of treatment that is not accessible to the general public. Newer modalities of treatment could benefit those who are suffering from the disorder and also make the treatment more accessible.