Unlike most of her peers, Namitha A. Kumar, a PhD holder from a reputed research institute in India, considers herself incredibly lucky to be alive. She suffers from thalassaemia, a rare genetic blood disorder, and lives in a country that currently has no national plan for people like her.
Dr. Kumar, along with Vijay Chandru from the Centre for Health Ecologies and Technology (CHET), was instrumental in framing the first ever draft policy in India for rare diseases with help from the Centre for Human Genetics. The policy was submitted to the Karnataka government in March 2016.
Thalassaemia is a genetic blood disorder commonly characterised by the abnormal production of haemoglobin in the body. The abnormality results in improper oxygen transport and destruction of red blood cells. It has wide-ranging effects on the human body like iron overload, bone deformities and in severe cases can cause heart diseases. The disease has no cure and people living with thalassaemia require regular blood transfusions as an effective measure to prolong life.
Ahead of World Thalassaemia Day on May 8, experts say India is the thalassaemia capital of the world with 40 million carriers and over 1,00,000 thalassaemia majors under blood transfusion every month. Despite this, there has been no move to put in place a prevention and control programme at the national level.
With preventive health checks not being the norm in India, people suffering from thalassaemia are unknowingly passing on this genetic disorder to their children. Whereas in the neighbouring Pakistan, a Bill making carrier testing compulsory for relatives of thalassaemia patients was passed in February. A similar system is in place in Dubai, Abu Dhabi and Saudi Arabia.
While the number of thalassaemics is growing in India, the effort to provide patients better health care is largely spearheaded by the private sector and non-governmental organisations. Over 1,00,000 patients across the country die before they turn 20 due to lack of access to treatment. The first case of thalassaemia in India was reported in 1938 and every year 10,000 children with thalassaemia major are born in India.
Dr. Kumar has been working to ensure that other thalassaemic patients in India get the same opportunities that she did.
Demand for a national policy
Shobha Tuli, president of the Federation of Indian Thalassemics, says the need of the hour is to have a national policy on thalassaemia. “This will help in not just creating awareness about the disease but also ensure treatment for all and strategies to prevent its spread,” she says. “In the absence of a national plan to prevent, control and provide adequate treatment for patients, there is little awareness about the disease. Patients need not just free blood transfusion but free lab tests and iron chelation medicines and other supplements, which are expensive. The disease can be prevented just if gynaecologists become more vigilant and screen for thalassaemia in every pregnant woman,” she says, adding, “Although thalassaemia is now under the purview of the Rights of Persons with Disabilities Act, 2016, we are not sure what help we will get from this.”
Dr. Chandru, director of the CHET, said the human and societal burden of hereditary haematological disorders in India has reached alarming numbers. “The number of adult carriers of genetic disorders runs into the tens of millions in India. Carrier screening and prenatal testing through cost-effective multi-gene panel tests is within reach as a public health initiative and is consistent with the broad goals of the National Health Policy 2017,” he says.
Although some States including Karnataka provide free transfusion and some free medicines to thalassaemics, there is a need for a better care facility and emergency services and lab tests. Karnataka has around 5,000 patients who come all the way to Bengaluru for treatment. The government must set up a basic transfusion facility in every district, demand patients.
Urging for ‘gene therapy’ as it is the only proven cure available, Gagandeep Singh Chandok, a thalassaemic, has started a petition on Change.org, an online platform to crowdsource support for various issues. “There is no known cure for thalassaemia except bone marrow transplant (BMT) and most patients in India can neither afford it nor do they have relevant matches with siblings or others. BMT can be done only for children up to the age of 10, after which it is a serious risk. Our only hope is gene therapy,” he says.
“We were thrilled when research on gene therapy was started in India several years ago. Unfortunately, due to a lack of incentives, willingness and support, the research has come to a standstill. There are clinical trials for thalassaemia gene therapy going on around the developed world. Clinical trials in India were stopped even though we have the highest number of thalassaemia patients in South Asia,” he adds.