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Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.

Journal of genetics - 1 Jan 2023

Bhattacharyya Upasana, Deswal Preeti, Polipalli Sunil Kumar, Sharma Diksha, Kaur Manpreet, Kapoor Seema, Thelma B K

Abstract excerpt

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 inbornmetabolic error. Disease prevalence and mutation spectrum have been reasonably reported fromcentral, western and southern parts of India...

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PMID: 37674284

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