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A groundbreaking study conducted by the Indian Council of Medical Research (ICMR) has demonstrated that newborn screening and early intervention can substantially reduce mortality among children with sickle cell disease (SCD), a serious inherited blood disorder. The findings, based on a five-year screening program across seven high-prevalence centers in India, show that early detection and treatment can cut mortality rates from 20–30% to less than 5%.
Between 2019 and 2024, a total of 63,536 newborns were screened as part of the study led by the National Institute of Immunohaematology in Mumbai. Of these, 7,275 infants (11.4%) were identified as carriers of the sickle cell gene, while 569 (0.9%) were diagnosed with SCD. The majority of families involved—57%—were from tribal communities, where SCD is particularly prevalent and often goes undiagnosed.
Dr. Manisha Madkaikar, Director of ICMR’s Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur, emphasized that without early detection, children with SCD are at risk of severe infections, anemia, and even strokes. “Finding the disease early can save lives by allowing doctors to start treatment before problems begin,” said Dr. Prabhakar Kedar, the principal investigator of the study.
Babies diagnosed early received comprehensive care, including preventive antibiotics, folic acid supplementation, appropriate vaccinations, and, where necessary, hydroxyurea therapy. Parents were also provided with genetic counseling and information on prenatal diagnosis to prevent future affected births in the family. This proactive approach resulted in a dramatic reduction in mortality and improved the quality of life for affected children.
Dr. Kedar highlighted the importance of newborn screening, especially in tribal and high-risk areas, where many deaths from SCD occur due to late diagnosis. “With screening, many of these deaths can be prevented,” he said. The study also aimed to understand regional differences and identify barriers to implementing newborn screening programs.
The participating centers included institutions in Jodhpur, Gujarat, Tamil Nadu, Mumbai, Jabalpur, Bhubaneswar, and Chandrapur. The study’s success underscores the value of early detection, timely care, and family education in combating sickle cell disease.
Disclaimer:
This news article is based on information from a syndicated feed and the referenced ICMR study. The study is yet to be published in a peer-reviewed journal. Readers are advised to consult healthcare professionals for medical advice or further information. The headline and picture of the original report may have been reworked by the Business Standard staff, but the content remains as per the syndicated source.
