Neonatal screening program for G6PD deficiency in India: need and feasibility

Area of Science:

• Genetics
• Neonatal Health
• Public Health

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects 400 million globally.
• In India, 390,000 children are born annually with G6PD deficiency, leading to significant childhood health issues.
• Current screening methods and coverage are insufficient to address the burden of this disorder.

Purpose of the Study:

• To propose a National Neonatal Screening program for G6PD deficiency in India.
• To outline a feasible and cost-effective screening strategy using the Formazan ring test.
• To advocate for the integration of this screening into existing healthcare infrastructure.

Main Methods:

• Utilizing a modified Formazan ring test for presumptive screening.
• Collecting blood samples via simple heel pricks within the first 48 hours of life.
• Employing basic laboratory equipment and reagents for test execution.

Main Results:

• The Formazan ring test is suitable for large-scale neonatal screening.
• The proposed screening program can be implemented using existing healthcare facilities.
• A phased rollout starting from tertiary hospitals in metropolitan cities is recommended, followed by national expansion.

Conclusions:

• A National Neonatal Screening program for G6PD deficiency is crucial for early detection and management in India.
• The proposed screening strategy is practical, scalable, and can be supported by existing health initiatives.
• Successful implementation requires increased health sector funding and gradual expansion to cover all deliveries, including home births.