Newborn Screening for Sickle Cell Disease: Indian Experience

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.