Key Information
Source
Year
2026
summary/abstract
Abstract
Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last decade. Our aim was to pool the birth prevalence of SCD and sickle cell trait (SCT). A systematic review of published evidence on nontargeted, universal screening for SCD or SCT in newborns was performed (16 studies). The pooled prevalence of SCD was 1100 per 100,000 (10 studies, 88,276 neonates, 95% CI: 432, 1768), while that of SCT was 9639 per 100,000 (7 studies, 72,702 neonates, 95% CI: 6283, 12,995) in endemic regions. Limited data exist from nonendemic regions. Only three studies had data on follow-up and confirmatory genetic diagnosis. Sparse data exist on cost-effectiveness, long-term follow-up, and the impact of early screening on mortality. Concerted ongoing efforts in the identification of the burden are needed. The needs of the hour are universalization of NBS, integration into existing health systems, and maintenance of birth cohorts with early introduction of penicillin prophylaxis, hydroxyurea, parental education, appropriate immunization, and continued follow-up by an experienced medical team.
1. Introduction
Sickle cell disease is the most common monogenic disorder in India [1], with inherent acute and chronic complications if undiagnosed and untreated. The Global Burden of Diseases (GBD) report on sickle cell disorders (SCDs) estimated approximately 82,500 births with sickle cell disorders (homozygous sickle cell, compound heterozygous HbS-thal, hemoglobin SC disease, compound heterozygous HbS-beta+) in India, with approximately 15,600 under-5 deaths attributable to these disorders, making them the 10th most common cause of under-5 mortality in the country [2]. They also found that India, along with the western and central parts of Africa, has the highest concentration of sickle cell disease disability burden. The prevalence of sickle cell trait (SCT) is as high as 35% in the endemic tribal population to nonexistent in other parts of the country [3]. The endemic regions in the country are South Gujarat, Maharashtra, Madhya Pradesh, Chhattisgarh, and western Odisha, with a smaller focus in Andhra Pradesh, Karnataka, northern Tamil Nadu, and Kerala [3].
The diagnosis and management of SCD have not been ideal in India due to regional, economic, and educational disparities. Targeted and protocolized follow-up exists only in pockets of high prevalence. National Family Health Survey 5 (NFHS-5) data show that the tribal population, which accounts for 8.6% of India’s population, has high under-5 mortality (52 per 1000 live births compared to 42 overall) and infant mortality (43 per 1000 live births versus 35.2 overall) [4]. The key reasons are a lack of systems for the early diagnosis of health issues, remote locations reducing access to good-quality healthcare services, an inequitable distribution of resources, and resistance to modern medical care.
Presently, under-5 mortality in India is 42 per 1000, and with current trends of improvement, it is unlikely that India will reach the SDG 2030 target (25 per 1000). Universal NBS is one of the tools to improve under-5 mortality. Early diagnosis of treatable disorders helps prevent progression and damage due to the disease. NBS helps in implementing preventive measures, providing opportunities for parental education, ensuring compliant follow-up, and helping reduce infant and child mortality.