Govt move to eliminate sickle cell anaemia a good decision but it may not be easy

It was mainly because of his efforts, said sources, that the department of science and technology, for instance, had been supporting a Rs 50 crore research and development project to develop a permanent cure for sickle cell using gene editing technologies.

Disease and concern in India

Sickle cell anaemia is one of a group of inherited disorders known as SCD as it affects the shape of red blood cells, which carry oxygen to all parts of the body.

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Red blood cells are usually round and flexible, so they move easily through blood vessels but in the case of sickle cell anaemia, some red blood cells are shaped like sickles or crescent moons. There can be people with either carrier gene of SCD when one parent has the disease or those with a full-blown condition when both parents carry the faulty gene.

It is due to this reason that the disease is present with varying degrees of severity, and in severe cases, periodic episodes of extreme pain, called pain crises, are major symptoms.

The pain also varies in intensity and can last for a few hours to a few days and while some people have only a few pain crises a year, others have a dozen or more a year. A severe pain crisis can even lead to a hospital stay and some adolescents and adults with sickle cell anaemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.

Also, people with the disease have frequent infections, delayed growth or puberty, vision problems and may have strokes at a later point in life.

There's no cure for most people with sickle cell anaemia except bone marrow transplant which is expensive and can mostly be offered only under 5 years of age. Treatments, on the other hand, are aimed at relieving pain and helping prevent complications associated with the disease.

India is among the countries with the highest burden of the disease globally, second only to Nigeria and mostly tribal people are afflicted with it, with some communities reporting as high as 40 percent of the population affected.

The states reporting the highest number of patients include Madhya Pradesh, Gujarat, Maharashtra, Chhattisgarh and Tamil Nadu, among others.

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Welcome move but not without challenges

Dr Anuradha Srikhande, an SCD researcher who is also associated with the Sickle Cell Association in Maharashtra, said a nationwide programme to eliminate the disease may include massive awareness creation, genetic counselling, pre-natal screening, newborn screening and treatment support to those with the disease.

Epidemiologist Dr Jammi N Rao said the policy is a good step as the disease blights the lives of the poorest trials but much will depend on its implementation and whether the government was willing to spend money for the programme.

Srikhande concurred. She pointed out that in some states, including Maharashtra, for instance, where there is a programme being run to support SCD, crucial drugs such as Hydroxyurea, which raises foetal haemoglobin levels in the patients, often run out in government hospitals.

“Much will depend on how seriously the project is taken at all levels,” she said.

Dr Pravas Mishra, a senior haematologist with Amrita Hospital in Faridabad, stressed that besides providing access to medications and recourse to transplant in severe cases, it is important to provide a prenatal diagnosis to carrier couples and help prevent the birth of affected children.

There should be more focus on communities that have a severe presentation, Mishra said.

“However, the provision of colour-coded cards to these very socially vulnerable populations, where nearly a third of the population are carriers, could result in discrimination and harassment,” he added.

‘Other diseases need support too’

Prasanna Shirol, co-founder and executive director of Organisation of Rare Diseases of India, on the other hand, maintained that it may be better for the government to focus on similar diseases under one umbrella, rather than coming up with disease-specific programmes.

“If, for example, there is government support announced for prenatal genetic counselling and screening and new-born screening, many diseases can be eliminated or brought down significantly and a lot of families will be saved from life-long financial and emotional trauma,” Shirol stressed.