Newborn Screening for Sickle Cell Disease Among Tribal Populations in the States of Gujarat and Madhya Pradesh in India: Evaluation and Outcome Over 6 Years.

Pallavi Thaker,Vishal Mehta,Abhishek Mistry,Roshan B Colah,Yazdi Italia,Jignisha Patel,Shrey Desai,Bhavesh Raicha,Rajasubramaniam Shanmugam,Malay B Mukherjee,Kanjaksha Ghosh,Kapilkumar Dave

doi:10.3389/fmed.2021.731884

Abstract

Sickle cell disease (SCD) poses considerable public health problems in India. This study was undertaken to understand the clinical course of SCD among children identified during newborn screening programmes in Gujarat and Madhya Pradesh where the frequency of the HbS gene is high. A total of 8,916 newborn babies 8,411 from Gujarat and 505 from Madhya Pradesh were screened over 6 years (2010–2016) using HPLC and the diagnosis was confirmed by molecular analysis in a subset. A total of 128 babies (122 Gujarat, 6 Madhya Pradesh) were identified with sickle cell disease, of whom 87 (69 HbSS, 18 HbS-β thalassemia) from Gujarat were followed for 0.5–6.6 years. Acute painful events, severe anemia and fever with infections were the major complications and 23 babies required hospitalization. Severe to moderate clinical presentation was found in 13.8% babies with SCD whereas, 86.2% babies had a milder presentation. Presence of ameliorating factors (α-thalassemia and Xmn 1 polymorphism) did not have a discernible effect on the clinical severity. Parents of babies with SCD were educated and counseled for home care. Distribution of mobile phones to 44 families having babies with SCD was beneficial as it allowed regular contact with patients and their families. Genetic counseling to the affected families has increased the awareness and acceptance for prenatal diagnosis and 18 couples opted for prenatal diagnosis in subsequent pregnancies. SCD is not always mild among tribal groups in India. Therefore, facilities for early diagnosis and prophylactic treatment in the tertiary care centers should be made available. The difficulties in regular follow up of the babies in remote rural areas have also been highlighted.

Highlights

Sickle cell disease (SCD) is a major public health problem in India with a higher prevalence among the tribal and some non-tribal ethnic groups
Diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children [1]
Newborn screening (NBS) enables the identification of babies with sickle cell disease at birth or soon after, within the first few days of their life before they present with any symptoms or complications

Summary

Introduction

Sickle cell disease (SCD) is a major public health problem in India with a higher prevalence among the tribal and some non-tribal ethnic groups. Newborn screening (NBS) enables the identification of babies with sickle cell disease at birth or soon after, within the first few days of their life before they present with any symptoms or complications. These babies can be regularly followed up with the provision of comprehensive care and timely management to reduce morbidity and mortality. It has been demonstrated in several countries that early diagnosis and providing care is critical in SCD as chances of lethal complications in infancy have been noted [2, 3]

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Results

Discussion

Conclusion