Gene therapy can revolutionise sickle cell treatment

The establishment of a robust system for data collection and surveillance is equally vital for SCD and thalassemia.
Image used for representational purposes only
Image used for representational purposes only

Over the years, there have been endless conversations between the government and stakeholders on the elimination of sickle cell disease (SCD) in India. In her 2023-24 budget presentation, Finance Minister Nirmala Sitharaman said that the government aimed to eliminate the disease by 2047. It is crucial to note that India has the second-highest disease burden of sickle cell anaemia globally after African countries.

An estimated 30,000-40,000 children in India are born with the disorder every year. In 2019, a nationwide screening by the Ministry of Tribal Affairs and the Indian Council of Medical Research (ICMR) that covered 1.14 crore individuals found the disease to be prevalent in 8.75% of those screened.

The latest data shows that 1 in 86 births among the Scheduled Tribe population is affected by sickle cell anaemia, with higher rates in central, western, and southern India. Also, as per National Health Mission (NHM) guidelines on haemoglobinopathies published in 2016, India has the largest number of children with thalassemia major in the world – about 1 to 1.5 lakh and almost 42 million carriers of ß (beta) thalassemia trait. About 10,000 -15,000 babies with thalassemia major are born every year.

Both SCD and thalassemia share some similarities which can be used to achieve great cost and effort synergies to make India both SCD and thalassemia-free nation. The establishment of a robust system for data collection and surveillance is equally vital for SCD and thalassemia. Monitoring the prevalence and incidence of thalassemia and SCD, along with its management outcomes, provides a foundation for informed decision-making.

Dr N K Ganguly
Dr N K Ganguly

Counselling and awareness

Inherited blood disorders like thalassemia and sickle cell disease can be significantly impacted by genetic knowledge. Investing in public education and genetic counselling empowers individuals to understand their carrier status. This awareness allows couples to make informed reproductive choices, potentially preventing the birth of children with these conditions. With wider education and access to genetic services, we can build a healthier future for families.

Universal screening methods

Newborn bloodspot screening programmes offer a powerful tool for identifying both thalassemia and sickle cell disease (SCD). These tests, often employing high-performance liquid chromatography, analyse red blood cell characteristics. Abnormalities in haemoglobin levels or structure can flag potential for either condition. This overlap allows for efficient screening, while further tests pinpoint the specific disorder. Early detection paves the way for proper management, improving the lives of children with these inherited blood disorders.

Glimmer of hope

The revolutionary gene-editing tool, CRISPR, offers a glimmer of hope for those suffering from inherited blood diseases like sickle cell disease and thalassemia. CRISPR technology holds the potential to precisely edit these genes, enabling the body to create functional red blood cells. This therapy suggests a future where a single treatment could rewrite the narrative for millions.

The treatment for sickle cell disease and beta-thalassemia is the first to be licensed using the gene-editing tool CRISPR. This marks ground-breaking progress in managing two hereditary blood conditions, both stemming from gene errors related to haemoglobin. Both diseases are caused by errors in the gene for haemoglobin, a protein in the red blood cells that carry oxygen to organs and tissues.

The therapy uses the patient’s own blood stem cells, which are precisely edited using Crispr-Cas9, which is the first-of-its-kind gene-editing treatment. Unfortunately, India is exploring a CRISPR-based SCD cure in isolation and has approved a five-year project to develop a CRISPR-based cure for SCD with no mention of thalassemia. Given that global clinical trials are taking these two disorders together, this is a great setback for thalassemia patients who will be deprived of such a cure for many years.

Availability and cost

This innovation is extremely encouraging as this is the first CRISPR-based therapy approved. However, it will take a few years to bring the technology to India along with another challenge of high and unaffordable cost. According to media reports, the technology is expected to cost between $1.2 million (Rs 10 crore) and $1.7 million (Rs 15 crore). Cost is one of the biggest limitations of newer gene therapies, along with the absence of local manufacturing facilities, which means that the harvested blood stem cells have to be sent across nations. The prices will likely come down as more and more people work on it. Along with this, developing local manufacturing facilities will also help.

Government intervention and subsidies, along with crowdfunding and philanthropy, can enable access to cure. The UK’s approval would inspire Indian researchers to develop their innovative therapies for CRISPR as they did with CAR-T for blood cancer, ultimately making the treatment more affordable.

As a healthcare professional, I feel we need to recognise the potential of gene therapy amid a significant burden of genetic disorders, addressing technical risks and ethical challenges with a robust regulatory framework. A concerted effort towards prevention and management of thalassemia and sickle cell disease is the need of the hour. It requires a collaborative approach among government, civil society organisations, thalassemia patient societies, and companies as a part of their corporate social responsibility to come together to strategise and implement measures required for a national control initiative. Once available in the country, the therapy can be a boon for millions of SCD and thalassemia patients.

(The author is former ICMR Director General)

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