Why in news?
A decade‑long study at a private hospital in Gurugram reported remarkable success in curing children with sickle cell disease using stem‑cell transplantation. From 2015 to 2024, doctors performed bone‑marrow transplants on one hundred paediatric patients, achieving an overall survival rate of 87 percent. These results have renewed calls to expand access to curative therapies for this inherited disorder.
Background
Sickle cell disease is a genetic blood disorder caused by a mutation in the gene that produces haemoglobin. Instead of round, flexible red blood cells, affected individuals make rigid, sickle‑shaped cells that block blood vessels. This leads to chronic anaemia, episodes of severe pain, increased susceptibility to infections, and organ damage. The disease is common in certain tribal communities in India and across sub‑Saharan Africa. Management traditionally relies on medications like hydroxyurea, pain relief and blood transfusions. A bone‑marrow or stem‑cell transplant from a healthy donor is currently the only established cure.
What the study found
- High success with matched donors: Transplants from matched siblings achieved a 96 percent success rate. Haplo‑identical (half‑matched) donors—usually parents—also showed encouraging results with a 78 percent cure rate.
- Reduced toxicity protocols: The team used conditioning regimens that minimise chemotherapy side effects. A technique called post‑transplant cyclophosphamide (PTCy) lowered the risk of graft‑versus‑host disease, improving outcomes even with half‑matched donors.
- Importance of early intervention: Children transplanted before significant organ damage had better recovery. Researchers emphasised timely diagnosis through newborn screening and early referral for transplantation.
- Need for donor registries: The study underscored the shortage of matched donors in India. It called for improving national stem‑cell registries and raising awareness about donation to increase the pool of potential donors.
Significance
- Hope for a cure: The results demonstrate that stem‑cell transplantation can cure the disease in a majority of patients, offering a normal life expectancy and freedom from painful crises.
- Policy implications: Expanding insurance coverage, government funding and infrastructure for transplant centres can make this therapy accessible to more families. Public health programmes must also continue preventive measures like carrier screening and pre‑marital counselling.
- Complementary therapies: While transplantation is curative, many patients will still rely on other treatments such as hydroxyurea, blood transfusions and, in the future, gene‑editing therapies. Combining preventive care with curative options will be essential.
Conclusion
The success of stem‑cell transplants offers a beacon of hope for those living with sickle cell disease. By investing in screening, donor registries and affordable transplant facilities, India can move closer to eliminating the burden of this hereditary disorder.
Source: NDTV · World Health Organization