Newborn Screening for Sickle Cell Disease: Reducing Mortality through Early Detection and Treatment

Newborn screening and early treatment can significantly improve quality of life and reduce mortality in sickle cell disease patients to less than 5%. The study, conducted by the ICMR across seven centers in high-prevalence areas of India, tested 63,536 newborns over five years. Early detection allows for preventive antibiotics, regular checkups, and long-term treatment planning, reducing future cases and early childhood deaths.

Early detection and treatment of sickle cell disease (SCD) through newborn screening can significantly improve the quality of life and reduce mortality rates in affected patients. A recent study conducted by the Indian Council of Medical Research (ICMR) across seven centers in high-prevalence areas of India has demonstrated the effectiveness of this approach. Over a five-year period from 2019 to 2024, the study tested 63,536 newborns, with notable results.

The study, led by Dr. Prabhakar Kedar and coordinated by Dr. Harpreet Kaur, revealed that early diagnosis and treatment can reduce mortality from 20-30% to less than 5%. This substantial improvement is attributed to early intervention, which includes preventive antibiotics, regular checkups, and long-term treatment planning. Early detection also allows for genetic counseling and prenatal diagnosis to avoid future births of affected children.

The study found that 7,275 babies (11.4%) were carriers of the sickle cell gene, while 569 babies (0.9%) were diagnosed with SCD. These babies received comprehensive care, including penicillin prophylaxis, folic acid supplementation, appropriate vaccinations, and hydroxyurea therapy as indicated. The implementation of this screening program is particularly crucial in tribal and high-risk areas of India, where many cases go undiagnosed, leading to early childhood deaths. With screening, many of these deaths can be prevented.

The study also aimed to understand regional variability and the role of genetic modifiers in SCD, as well as to identify barriers for newborn screening implementation. The seven centers participating in the study are the National Institute For Implementation Research on Non-Communicable Diseases in Jodhpur, Society for Education, Welfare and Action-Rural (SEWA -Rural) in Gujarat, the Nilgiris Adivasi Welfare Association (NAWA) in Tamil Nadu, ICMR- National Institute for Research in Reproductive Health in Mumbai, ICMR-National Institute of Research in Tribal Health (NIRTH) in Jabalpur, ICMR-Regional Medical Research Centre in Bhubaneswar, and ICMR- Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Chandrapur.

Of the total 63,536 newborns tested, 57% belonged to tribal parents. The findings of this study underscore the potential of newborn screening in saving lives, especially in high-prevalence areas. Early detection and treatment not only improve the health outcomes of affected individuals but also contribute to the overall reduction in the incidence of the disease.

References:
[1] https://www.thehindu.com/sci-tech/health/newborn-screening-early-treatment-can-cut-sickle-cell-anaemia-mortality-icmr-study/article69724166.ece
[2] https://economictimes.indiatimes.com/news/india/newborn-screening-early-treatment-can-cut-sickle-cell-anaemia-mortality-icmr-study/articleshow/122002777.cms