New Delhi: A newborn screening programme for sickle cell disease (SCD), conducted between 2019 and 2024, has significantly reduced mortality among affected children in India, according to Dr. Manisha Madkaikar, Director of the ICMR- Centre for Research Management and Control of Haemoglobinopathies (CRHCM), Nagpur.
The study revealed that early diagnosis and comprehensive care brought down the mortality rate from 20-30 per cent to under 5 per cent.
The programme, led by the ICMR-National Institute of Immunohaematology (NIIH) in Mumbai, screened 63,536 newborns over five years across seven centres in high-prevalence regions of India. These included Udaipur (Rajasthan), Bharuch (Gujarat), Palghar, Chandrapur, and Ghadchiroli (Maharashtra), Mandla and Dindori (Madhya Pradesh), Nabrangpur and Kandhamal (Odisha), and the Nilgiris (Tamil Nadu).
Of the total babies screened, 546 were identified with sickle cell disease. Gujarat reported the highest number of cases (134), followed by Maharashtra (127), Odisha (126), Madhya Pradesh (97), Rajasthan (41), and Tamil Nadu (21). A total of 22 deaths (4.15 per cent) due to SCD were recorded during the study.
Dr. Madkaikar explained that early detection enables timely medical intervention, which is critical for managing SCD—a chronic, single-gene disorder characterised by chronic anaemia, painful episodes, organ damage, and significantly reduced life expectancy.
“Sickle cell disease is a chronic, single-gene disorder that causes a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction, and chronic organ damage, significantly reducing life expectancy,” she said.
“Newborn screening programme is recommended for sickle cell disease because as early you diagnose the sickle cell disease, you can initiate comprehensive care in the form of penicillin prophylaxis, some vitamins, appropriate vaccination, and then hydroxyurea therapy,” she added.
“Our newborn screening has shown that comprehensive care could be given early to patients, it has significantly brought down the mortality which was earlier mortality rate was reported to be around 20 to 30 per cent, this has brought down the mortality risk less than 5 per cent.”
The study also found that 57 per cent of the newborns tested were from tribal communities, while 43 per cent belonged to non-tribal families.
Dr. Madkaikar also highlighted the role of cascade screening in managing the disease. “The study showed that early intervention definitely helps, it also helps in cascade screening as you identify one baby with the sickle cell disease, you counsel the family, you test the family members, and it helps in further diagnosis of existing patients as well as prevention of further birth of the disease.”
She recommended that newborn screening for SCD should be made routine in all high-prevalence areas of India.