Protocol for a Multicentric Cohort Study on Neonatal Screening and Early Interventions for Sickle Cell Disease among high prevalence states of India

Abstract

Background Sickle Cell disease (SCD) has a very widespread geographical distribution including most of Africa, the Middle East, the Indian Sub-continent and parts of the Mediterranean. The higher prevalence of SCD is consequently associated with increased rates of infant and childhood morbidity and mortality. Therefore, early detection is a crucial aspect of managing SCD to mitigate complications and improve health outcomes for children suffering from SCD. Neonatal screening is the primary method for identifying newborns with SCD, enabling early diagnosis, family screening, and comprehensive medical care. The protocol presented in this paper describes a study aimed at screening newborns for SCD in high-prevalence SCD states of India to understand the magnitude of the problem and the benefits of early comprehensive care. It will also evaluate the genotypic and phenotypic correlation to understand the role of genetic modifiers in disease severity.Methods A prospective cohort study will be conducted across seven sites in six states of India (Rajasthan, Odisha, Tamil Nadu, Maharashtra, Madhya Pradesh, and Gujarat), having a high prevalence of SCD. The cord blood or heel prick samples of all the live-born babies delivered within the facilities of selected regions will be collected for screening SCD by HPLC (High-Performance Liquid Chromatography). All the sickle cell homozygous (SS) babies will be confirmed at 6 weeks for Sickle genotype along with cascade screening. Further, all SS babies will be followed up from six weeks up to five years of life with initiation of folic acid, antibiotic prophylaxis, and Hydroxyurea treatment at appropriate times. Follow-up beyond the study period will be integrated with the existing facilities of the selected centres for sustainability.Discussion The protocol aims to lay the groundwork for the smooth implementation of newborn screening programs and effective follow-up strategies. It will pave the way for developing a strategic framework for implementing newborn screening programs for hemoglobinopathies in India.Trial registration Since the study does not involve a clinical trial and does not propose any health care intervention on human participants, it is not registered as a Clinical Trial