Newborn Screening for Sickle Cell Disease: Indian Experience

• Main Authors: Roshan B. Colah (Author), Pallavi Mehta (Author), Malay B. Mukherjee (Author)
• Format: Book
• Published: MDPI AG, 2018-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2409-515X; 10.3390/ijns4040031
• Keywords: newborn screening; sickle cell disease; India; tribal; non-tribal; Guthrie spots; cord blood; automated HPLC; Pediatrics; RJ1-570
• Source: International Journal of Neonatal Screening, Vol 4, Iss 4, p 31 (2018)

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.