Genetic therapies have created a lot of hope for treating SCD, yet they require the same amenities still out of reach of those most affected by the disease
Sarojini Nadimpally, Gargi Mishra, Keertana K. Tella | The Hindu | March 27, 2024
When five-year-old Suraj was debilitated with a persistent fever, his family took him to the district hospital in Nuapada in western Odisha. The hospital directed them to the Veer Surendra Sai Institute of Medical Sciences and Research at Burla in Sambalpur, around 250 km from their village. At the Institute, Suraj underwent a diagnostic test called haemoglobin electrophoresis to detect whether he had sickle cell disease (SCD). When the tests confirmed SCD, the Institute registered him as a patient and referred him to Nuapada district hospital for blood transfusions.
Suraj’s story came up during our work with the National Human Rights Commission in 2019. It provides a glimpse of the difficulties that people like Suraj, from marginalised tribal communities, face even to access basic healthcare and diagnostics.
It is, however, the beginning of an arduous battle with an under-resourced health system, inadequate information, and high expenditure.
In light of these realities, and the global discussion on advances in human genome editing, the question that becomes especially pertinent is whether these conversations allow for and are cognisant of such experiences.
SCD is an inherited haemoglobin disorder in which red blood cells (RBCs) become crescent- or sickle-shaped due to a genetic mutation. These RBCs are rigid and impair circulation, often leading to anaemia, organ damage, severe and episodic pain, and premature death. India has the third highest number of SCD births, after Nigeria and the Democratic Republic of the Congo. Regional studies suggest approximately 15,000-25,000 babies with SCD are born in India every year, mostly in tribal communities.
Per the 2023 ‘Guidelines for National Programme for Prevention and Management of Sickle Cell Disease’, of the 1.13 crore persons screened in different states, about 8.75% (9.96 lakh) tested positive. It is also one of the 21 “specified” disabilities listed in the Schedule of the Rights of Persons with Disabilities Act 2016.