India is known as the “Thalassemia capital of the world.�It has the highest number of patients with thalassemia major in the world. India has around 50 million (5 crore) carriers of the ß (beta) thalassemia trait. Over 10,000-15000 new cases of thalassemia are diagnosed in India each year. India, with its vast population, is contributing to approximately 25 per cent of the global beta thalassemia reported cases, with an average carrier frequency of 3-4 per cent.

This is higher than HIV/AIDS cases that form 2-2.5 per cent of the population. Thalassemia major patients require ‘life long�blood transfusions once every 15-20 days, and iron chelation therapy, leading to substantial financial and social costs for families and the healthcare system. The highest prevalence of thalassemia in India is observed in states like Punjab, Gujarat etc, where a higher number of thalassemia carriers reside.

Financial burden

On average, approximately 2 Lakh is spent on a thal major patient/year.

The only cure for thalassemia major is a bone marrow transplant, (BMT), which is expensive and requires a matching donor.

A Thalassemic major has to, in addition to the frequent blood transfusions and the trauma associated with it, face the social paranoia stemming from ignorance and prejudice in the community, leading to social isolation for many families.

The Government has taken several steps to address this issue like:

�It has set up a National Program for Control of Blood Disorders (NPCBD) to address blood disorders like thalassemia. It involves awareness campaigns, screening programs, and the provision of blood transfusion services, but it is not sufficient.

�It has declared May 8th as National Thalassemia Day and supports awareness campaigns, counseling, and screening programs, particularly in schools and rural areas.

�A few States such as Gujarat, have launched state-level thalassemia screening programs, targeting high-risk populations and offering genetic counseling. But couldn’t reach any conclusion.

The Central Government has been strengthening infrastructure like blood banks and stem cell registries to provide more treatment options for thalassemia patients.

Research activities in India:

�A lot of data is being collected, analysed and research being conducted by the. Indian researchers, while exploring genetic screening methods and their effectiveness in detecting thalassemia carriers, especially in rural areas.

�The only effective cure available today is the Bone marrow transplant. Some centres in India are conducting bone marrow transplantation as a potential cure for thalassemia, particularly in children.

�Indian scientists are exploring the feasibility of gene therapy for thalassemia, although it remains in the experimental phase.

�Epidemiological Studies are going on to understand the genetic diversity and prevalence of thalassemia across different regions of India.

�TSCS, Hyderabad, has set up a research wing that is focused on analyzing and studying the huge volume of data collected and find out a solution to make India a Thalassemia free nation.

Global Research Activities: Various research activities are going on in full-swing to find a solution to this easily preventable genetic blood disorder.

�Gene Therapy: Worldwide, research is focused on developing gene-editing techniques like CRISPR/Cas9 to correct the mutations that cause thalassemia.

�A landmark study by St. Jude Children’s Research Hospital and Memphis University in the U.S. has shown promising results for gene therapy for thalassemia major.

�FDA-Approved Therapies: Trials like LentiGlobin and other gene therapies have been showing promise in correcting the genetic defect.

�Stem Cell Transplantation: Ongoing research on improving stem cell transplants (both autologous and allogeneic) as a potential cure for thalassemia.

�Drug-Based Therapies: New drugs are being researched to reduce the need for frequent blood transfusions, such as luspatercept, which helps stimulate red blood cell production.

Is it possible to eradicate Thalassemia?

Eradicating thalassemia in India requires concerted, multi-faceted efforts. A possible option to control this burden is to endorse education and awareness programs, compulsory prenatal screening, and develop suitable facilities for genetic counseling, and availability of cost-effective diagnostic tests, especially in rural areas. The primary factors involved are:

Education and awareness: Public awareness campaigns to educate people about genetic counseling and the risks of marrying carriers are essential.

Access to healthcare: Effective treatment options, like regular blood transfusions, bone marrow transplantation, and gene therapy, should be made widely accessible. Access to blood transfusions is crucial to managing the disease.

Gene therapy and stem cell transplants: Continuing advancements in bone marrow transplants and gene therapy (correcting mutations directly in patients) are promising methods. These treatments have the potential to cure thalassemia, but are currently expensive and limited in availability.

Policy support: Governments need to create policies and provide funding for genetic screening, research, and healthcare infrastructure.

How to eradicate it:

•The first step should be to pass a bill, for Antenatal Screening & instructing all the Gynecologists & Hospitals to compulsorily do HbA2 test for all the pregnant women in their first trimester of pregnancy.

•Early Intervention: Screening programs in schools and communities to detect carriers early.

•Prevention Programs: Implement genetic counseling to reduce the number of marriages between carriers.

Cyprus & many other countries have shown to the world by being the first ‘Thalassemia Free Countries that if the people are determined and there is a political will, then thalassemia can be eradicated from the globe. Thalassemia can be eradicated from India with a collective will of the people and the Government within ten years. We have done it with Small pox and we have done it with Polio. It is now Thalassemia’s turn.

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Views expressed above are the author's own.

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