Sonam Madan, 30, has been getting blood transfusions every month, sometimes twice a month, since the time she was six months old. She has a genetic blood disorder called thalassaemia, which results in the production of malformed red blood cells causing chronic anaemia.

But, getting the regular blood transfusions are not enough. She needs to take medicines for chelation, a process by which excess toxic metals are removed from the body.

“The regular transfusions lead to excess iron depositing on organs, which if left untreated can cause organ damage. I was given excess blood once, which resulted in my pancreas getting affected. I now have diabetes and need to take insulin to control my sugar levels,” she said. The regular blood transfusions also put thalassaemics at the risk of contracting blood-borne infections like Hepatitis B and HIV.

There are around 2,200 people living with thalassaemia in Delhi and over one lakh in the country.
The cost involved in regular therapy is a problem for many families. “In private healthcare facilities, families would end up spending anywhere between r 1 – 2 lakhs for the blood transfusions and chelation drugs. This is no small amount. However, in the last two years, the government has been making some efforts. Now, free blood transfusions and chelation is available in many government healthcare facilities across the country,” said Shobha Tuli, vice-president, Thalassaemia International Federation.

Thalassaemia and resulting complications are not covered by any insurance providers in India.
India has made headway in its programme for preventing thalassaemia major and providing treatment to people living with it, however activists say that there is a long way to go before the benefits reach everyone.

This is what they would be demanding this year on the World Thalassaemia Day with the theme of ‘Universal Access to Quality Healthcare for Thalassaemia’.

Prevention

“Access to affordable treatment is only one aspect of it, however. The government programme needs to focus on prevention. As part of Thalasaemics India we have written to the government that by 2025 we should aim to achieve zero thalassaemic births,” said Tuli.

Apart from the people living with the disease are said to have thalassaemia major, however, several times more people with thalassaemia minor carry the gene that can lead to the disease. About 3 to 17% of the Indian population are carriers.

“When two people with thalassaemic minor have children, there is a 25% chance that the child born will have thalassaemia major. This needs to be prevented. The children with thalassaemia major live with a lot of complications and there is a societal cost too,” said Dr SK Arora, head of Delhi government’s thalassaemia programme.

Bone marrow transplant and a centralised registry

The only way to cure a person with thalassaemia is through a bone marrow transplant.
“Bone marrow transplant in children born with thalassaemia major is recommended as it is the only cure. The patients living with blood transfusions just live up to 25 to 30 years. Also, on ground, the regular transfusions may not be so regular in many parts of the country, with critical people getting it first,” said Dr Dharma Chaudhary, bone marrow transplant specialist at BL Kapur superspeilaity hospital.

The first choice for the transplant is a sibling with a complete HLA match. HLA or human leukocyte antigen is a set of genes responsible for coding the proteins that regulate the body’s immune system.

“The next choice would be suitably matched parents. But, what of those who do not find a match? They need to find unrelated donors with suitably or half HLA matched. The chances of finding such a donor currently are 1 in a lakh to a million. With a government supported bigger registry, theoretically the chances should improve,” said Dr Chaudhary.

Bone marrow transplant is not covered by any of the insurance companies in India, even for the treatment of blood cancers. It can costs anywhere between Rs 15 to 30 lakhs.

Thallasaemia symptoms

Fatigue
Weakness
Pale or yellowish skin
Facial bone deformities
Slow growth
Abdominal swelling
Dark urine