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Newborn Screening for Sickle Cell Disease: Indian Experience
Roshan B Colah1, Pallavi Mehta1, Malay B Mukherjee1
1ICMR-National Institute of Immunohaematology, KEM Hospital Campus, Mumbai 400012, India.
Insights
Newborn screening for sickle cell disease (SCD) in India is feasible, even in rural areas. Early diagnosis and care are crucial, as SCD complications can be severe in infants, necessitating a national screening program.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Sickle cell disease (SCD) poses a significant public health challenge in India, particularly among tribal populations.
- Clinical presentation of SCD varies widely, with potential for severe, life-threatening complications in early infancy.
- Early diagnosis and intervention are critical for managing SCD and preventing infant mortality.
Purpose of the Study:
- To assess the feasibility and outcomes of neonatal screening programs for sickle cell disease in India.
- To understand the clinical variability and complication rates in infants diagnosed with SCD through newborn screening.
- To inform the development of a national strategy for SCD management and prevention in India.
Main Methods:
- Pilot neonatal screening programs for SCD were implemented in select Indian states starting in 2010.
- Automated High-Performance Liquid Chromatography (HPLC) was used to screen 18,003 newborns using cord blood or dried blood spots.
- Follow-up assessments were conducted on diagnosed SCD cases to monitor clinical presentation and complications.
Main Results:
- Out of 18,003 screened newborns, 2944 were identified as sickle cell carriers and 300 as having SCD.
- Significant variation in clinical presentation was observed, with non-tribal infants experiencing more severe disease.
- Approximately 30% of infants with SCD developed serious complications within the first 2.6 years of life.
Conclusions:
- Neonatal screening for SCD is feasible in India, including rural settings.
- A national newborn screening program for SCD is recommended in high-prevalence areas, coupled with comprehensive care centers.
- Further long-term follow-up is necessary to fully understand SCD's natural history in India and guide public health strategies.
Abstract:
Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.
