By Dr Santanu Sen
Thalassemia is an inherited blood disorder that results in the body having less haemoglobin than normal. Haemoglobin in our red blood cells carries oxygen. Hence, Thalassemia causes severe anaemia, tiredness, fatigue, growth failure and patients need lifelong blood transfusions every 2-3 weeks to survive. They also need prolonged medical therapy to manage all the numerous complications that arise from the disease and from having frequent blood transfusions.
It is a genetic disease that occurs in children, where both the parents carry a single defective copy of the gene responsible for blood production. Though the parents themselves have no problems, 25% of children of such couples would inherit defective genes from both parents and become affected.
India, with about 100,000 patients, has one of the highest numbers of thalassemia patients in the world. And every year more than 10,000 children are born with thalassemia. It is seen in large numbers among certain communities, such as Sindhis and Punjabis from Northern India, Bhanushali’s, Kutchis, Lohana’s from Gujarat, Mahar’s, Neobuddhist’s, Koli’s and Agri’s from Maharashtra, & Gowda’s and Lingayat’s from Karnataka etc. where the carrier rate is extremely high.
Once a child is diagnosed to have thalassemia, they will need regular lifelong blood transfusions 2-3 weeks. They also need treatment to manage the disease and complications of blood transfusions, such as short stature, delayed puberty, growth failure, diabetes, and infections such as Hepatitis B & C, HIV, CMV etc. A lifelong therapy to control the iron overload that results from the repeated blood transfusions is also required. The overall quality of life for most children is very poor with lower life expectancy and frequent admissions. Most children do not have access to properly managed expert care and end up being under transfused and having to suffer from chronic ill health, multiple infections and significantly shortened life span. Less than 5-10% of these children born in India receive optimal treatment.
A stem cell transplantation (also known as a Bone Marrow transplant or BMT) is the only cure for thalassemia major. However, finding a suitable donor is still a major obstacle to curing these patients. An ideal donor for BMT is a brother or sister who does not have the disease and is also genetically completely matched to the patient. A special test called HLA typing is used to check if the patient and the possible donor is a full match. A second choice is a matched unrelated donor, if available from a stem cell registry. Though previously lacking, fortunately, India now has a good stem cell donor registry called Datri, where volunteer donors can register themselves and be a potential lifesaver when they are found to be a match for a patient with a fatal disease.
However, the vast majority of patients lack either a sibling or an unrelated donor. A recent ray of hope for them has been the successful use of Haploidentical donors. Here, a sibling or parent who may be a half match to the patient can be used as the donor for the transplant. This approach for Haploidentical transplants has been very successfully used in various blood cancers. A similar approach has given encouraging results for Thalassemia major patients with stable engraftment and a transfusion independent life with normal life expectancy. Another option for a cure is gene therapy whereby the patient’s own stem cells are genetically edited and transplanted back to the patient to restart the production of blood.
Currently, COVID has caused great misfortune in the life of thalassemia patients. With voluntary blood donations falling to an all-time low in the country due to the pandemic, blood banks are struggling to find suitable and adequate units, and patients are having to wait for a longer period without any available transfusions. In addition, many private thalassemia centres have also shut down over this period, leaving patients struggling to make alternate arrangements at the last moment. Thalassemia patients who contact COVID are doubly affected: firstly by the illness itself from the virus and secondly as most units will refuse admission to a positive patient for a transfusion. Though exact data is lacking, there are some indications that COVID itself might be more serious in thalassemia patients. Many BMT units have stopped transplants due to concerns over the risk of COVID in transplanted patients.
Prevention of thalassemia would be the ideal solution to the problem. This can be done by creating awareness amongst high-risk communities, telling them about the prevalence of the disease and the many difficulties in the management of this condition. Young adults in these communities need to be screened to identify those people who may not even know that they are a carrier for the disease. Haemoglobin electrophoresis is the confirmatory test to diagnose thalassemia minor or carrier status and such patients need to be counselled about the risk of the disease in their children if they should marry another carrier. All at-risk couples need to be counselled about the prenatal diagnosis to confirm the thalassemia status of the foetus, which can help to decide whether or not it is suitable to continue the pregnancy.
Hopefully, a multipronged strategy as detailed above can lead us to the age where no child should suffer from thalassemia.
(The author is Consultant, Paediatric Hematology, Oncology & Stem Cell Transplantation, Kokilaben Dhirubhai Ambani Hospital. The article is for informational purposes only. Please consult experts and medical professionals before starting any therapy or medication. Views expressed are personal and do not reflect the official position or policy of the Financial Express Online.)
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