Doctors call for more attention to plight of thalassemia patients

Mumbai, May 10, 2022:

Over 10,000 children are born in India with thalassemia every year, but only a handful receive the curative treatment of blood stem cell transplant. The rest are forced to struggle to manage the disease with regular blood transfusions, leading to the risk of iron overload in the body and serious health complications, doctors have said on the occasion of the World Thalassemia Day which took place on May 8, 2022.

Experts recounted several challenges in tackling the burden of thalassemia, including lack of comprehensive centres for thalassemia care, absence of facilities for timely diagnosis in new-borns, demand for packed red cells for blood transfusion far outstripping the supply, and the long wait to find a matching donor for blood stem cell transplant.

Thalassemia is an inherited blood disorder that causes the body to have less haemoglobin than normal. According to World Health Organization, four million Indians are thalassemia carriers, while more than 1,00,000 are the actual patients battling the disease. Parents, who are usually asymptomatic, are the carriers of Thalassemia, and have a 25 per cent chance of passing the disease to their children.

Says Dr. Sunil Bhat, director & clinical lead, paediatric haematology, oncology and blood & marrow transplantation, Narayana Health, Bengaluru, “Due to financial barriers and lack of access to treatment, many child patients in India do not survive into adulthood. One of the major challenges is the lack of adequate pre-natal diagnosis facilities for thalassemia, especially in rural areas. All thalassemia patients need a timely supply of safe blood for regular blood transfusion. It is not a permanent solution and is quite a painful process for the child. The annual requirement of packed red cells is about 2 million units in India, which is far more than supply. Thousands of families struggle month after month in making packed red cells available for their children for blood transfusion.”

Repeated packed cell transfusions lead to iron overload in patients, with surplus quantities of iron getting deposited in organs like liver, heart and endocrine glands. “Iron overload is usually the cause of death in the second or third decade of life. Thalassemia patients need to be on medications to remove the extra iron from their bodies to ensure a normal life span. Yet, in spite of freely available drugs, less than 10 per cent of thalassemia patients in India are adequately chelated. Factors like ignorance, poor compliance and, more importantly, unaffordability are the major reasons for this,” says Dr. Sunil Bhat.

He adds, “Thalassemia is a multi-system problem. In addition to regular blood transfusion and iron chelation, the disease needs to be managed by a multidisciplinary team that should have a haematologist, endocrinologist, cardiologist, nutritionist, nurse practitioner, etc. to provide holistic care. There are hardly any comprehensive centres for thalassemia care in India. Less than 5 per cent thalassemia patients in the country receive care in such centres, which negatively impacts the disease outcome.”

With advances in the medical field, thalassemia major, once considered a cumbersome disease with lifelong blood transfusions, iron overload and limited lifespan, has seen a shift in the last decade with blood stem cell transplant, the only curative treatment option available for thalassemia. In a blood stem cell transplant, stem cells are collected from blood of the donors and transplanted into the thalassemia patient after their bone marrow has been destroyed. Only 30 per cent of patients who need transplants have a fully HLA (human leukocyte antigen) matched donor in their family, the rest of them depend on an unrelated donor.

Says Dr Sunil Bhat, “Patients and donors of Indian origin have unique HLA characteristics that are severely under-represented in the global database, which makes the probability of finding a suitable donor even more difficult. Indian patients mainly require an Indian tissue match. This calls for increased awareness and the need to encourage people in India to register as a potential blood stem cell donor. Recent data shows more than 90 per cent success rate of stem cell marrow transplantation in patients who have HLA matched siblings. However, only a very small percentage of cases undergoes this procedure due to factors like ignorance about the procedure, affordability, inadequate centres where this treatment is available and a lack of donors.”

Registering as a potential donor is an easy process which can be done through the online portal of a stem cell registry. Once you sign-up, you will receive a DIY home swab kit to take your cheek swab samples and send it back to the registry!  Once an individual comes up as a match for a blood cancer patient, blood stem cells from the individual are obtained from the bloodstream using a procedure called peripheral blood stem cell collection, which is similar to blood platelet donation wherein only the blood stem cells are taken.

Patrick Paul, CEO, DKMS BMST Foundation India, says, “It is our mission to support blood cancer, and other blood disorders such as Thalassemia patients in India, for which we have initiated DKMS-BMST Thalassemia programme. Under this programme, DKMS-BMST collaborates with local NGOs and transplantation clinics to organize camps where paediatric thalassemia patients and their siblings travelling from afar places in India to give buccal swab samples for free HLA typing. Samples from the camps are analysed in the DKMS laboratory based out of Germany and clinical matching reports of the same are provided. In cases where there is no matching sibling for a sick child, we also support unrelated donor searches for patients.” Since the inception of the programme, so far 7162 HLA typings have been facilitated by DKMS-BMST.

Baby Bhushra Naqeeb, an 11-year-old girl is a thalassemia survivor. Baby Bhushra suffered from paleness and low haemoglobin when she was just 6 months old. After several tests and evaluation, she was diagnosed as Thalassemia positive. She had to undergo painful blood transfusion for over 10 years until the doctor suggested an allogenic stem cell transplant as her only chance at survival. Hence the patient family decided to go for a stem cell transplant. In February 2021, with the support from DKMS-BMST thalassemia programme, the sample collection was done for the family and she got a perfect match with her sister Soha. She underwent stem cell transplantation in October 2021 under Dr. Sachin Jadhav, HCG Group of Hospitals. Post the transplant, Bhushra is able to lead a normal life as she also attends regular school.

Shobha Tuli, founder of the NGO - Thalassemics India, president-Federation of Indian Thalassemia Associations, says “At present Stem cell Transplant is the only curative treatment available for Thalassemia patients. If not cured on time, such patients are dependent on blood transfusions all throughout their lives along with other expensive treatments & regular investigations. Thalassemia Bal Sewa Yojna is a unique project initiated by the Union ministry of health & family welfare. Under this scheme, a patient can get financial aid up to Rs. 10 lakhs from Coal India Ltd. DKMS has offered us an opportunity to get free HLA tests done in the country. This enables the patients to check if they have a matched sibling. Thalassemics India is so grateful to DKMS for such an opportunity being given to patients who otherwise couldn't have afforded the costs of the HLA matching.”  Pharmabiz