Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study
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Date
2023-08
Journal Title
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Publisher
The Indian Academy of Sciences
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked disorder with well-established clinical and allelic heterogeneity and ethnic disparity. With *390,000 annual births with G6PD deficiency in India, it emerges as the most predictable and preventable inborn metabolic error. Disease prevalence and mutation spectrum have been reasonably reported from central, western and southern parts of India and are mostly retrospective studies. Although prevalence data from north India is available, there is paucity of data on the mutation spectrum and genotype–phenotype correlation (G9P). Thus, we aimed at establishing the clinical and mutation profiles for G6PD, as a part of a large prospective newborn screening study conducted between 2014 and 2016 across hospitals in Delhi, India. G6PD activity levels were measured at 24–48 h of life for *200,000 neonates using Victor 2D and/or Genomic Screening Processor followed by confirmatory spec- trophotometric analysis using RBC lysates of the respective neonates based on clinical symptoms. A subset of 570 enzyme deficient neonates were screened for mutations by polymerase chain reaction-restriction fragment length polymorphism and/or Sanger sequencing. Mediterranean was the most common mutation (n=318; 55.8%) with the lowest enzyme activity and most severe phenotype, followed by G6PD Orissa (n=187;32.8%); Kerala-Kalyan (n=25); Jammu (n=24); Mahidol (n=14); Chattam (n=1) and Nilgiri/Coimbra (n=1). Of the 163 intramural neonates followed up, 68 developed clinical jaundice. However, no correlation was observed between jaundice and enzyme level. Notable outcome of this first ever prospective screening approach for G6PD deficiency in neonates may help in prediction of disease severity and appropriate timely management.
Description
Keywords
glucose-6-phosphate dehydrogenase deficiency, G6PD mutation spectrum, north India, newborn testing, jaundice.
Citation
BHATTACHARYYA UPASANA, DESWAL PREETI, POLIPALLI SUNIL KUMAR, SHARMA DIKSHA, KAUR MANPREET, KAPOOR SEEMA, THELMA B. K. . Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study. Journal of Genetics . 2023 Aug; 102: 1-7