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Neonatal screening program for G6PD deficiency in India: need and feasibility
1Public Health Foundation of India, Indian Institute of Public Health- Delhi, Sector 44, Institutional area, Gurgaon 122 002, India. harish.nair@phfi.org
Insights
A national neonatal screening program using the Formazan ring test can detect Glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns. This initiative aims to reduce childhood morbidity and mortality in India.
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.
Abstract:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder affecting approximately 400 million people worldwide. In India, 390,000 children are born annually with this disorder causing significant morbidity and mortality in childhood. A National Neonatal Screening program for presumptive screening of all neonates using modified Formazan ring test method could be introduced. The test requires blood sample obtained using simple heel prick in the first 48 hours of life, and can be carried out using basic laboratory equipment and reagents. The screening program could be introduced in all institutional deliveries at tertiary hospitals in the major metropolitan cities and then gradually scaled up to cover institutional deliveries over the entire country. After field trials, the program can be expanded to cover home deliveries as well. Increased funding for the health sector under the National Rural Health Mission can provide the required financial support to the program.

