title: Newborn screening for G6PD deficiency: A 2-year data from North India.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, being present in more than 400 million people worldwide that may lead to neonatal jaundice or hemolytic crisis due to drugs or infections. In our study, we aimed to study the frequency of G6PD deficiency in neonates and the proportion of deficient neonates, who developed neonatal hyperbilirubinemia in the study population. The study was an observational one, conducted at the Division of Genetics of Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, over a 2-year period from January 2011 to December 2012. A total of 6,000 newborns delivered during that period underwent newborn screening on 24-72 h of birth. Neonatal hyperbilirubinemia was presented in 13.3% of the study population. Of female neonates, 16% demonstrated G6PD deficiency. This is worth noting for an X-linked recessive trait. Thus, in view of a high gene frequency for a disorder that is manageable with just elimination of few drugs and foodstuff, we stress the need for a newborn screening program for G6PD deficiency.
authors.forename: Manisha
authors.initials: M
authors.lastname: Goyal
authors.forename: Amit
authors.initials: A
authors.lastname: Garg
authors.forename: Mohan B
authors.initials: MB
authors.lastname: Goyal
authors.forename: Somesh
authors.initials: S
authors.lastname: Kumar
authors.forename: Siddharth
authors.initials: S
authors.lastname: Ramji
authors.affiliation: Professor, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor