Molecular Characterization of G6PD Deficiency at a North Indian Centre: Implications for Diagnostic Testing Laboratories in Different Regions of India

Author:

Singh Namrata,Kapadia Alpeshkumar Bipinbhai,Sharma PrashantORCID,Das Reena,Jain Karuna,Sachdeva Man Updesh Singh,Khadwal Alka Rani,Bal Amanjit,Varma Neelam

Funder

Indian Council of Medical Research

Medical Education and Research Cell, PGIMER

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Reference10 articles.

1. Arunachalam AK, Sumithra S, Maddali M, Fouzia NA, Abraham A, George B, Edison ES (2019) Molecular characterization of G6PD deficiency: report of three novel G6PD variants. Indian J Hematol Blood Transfus. https://doi.org/10.1007/s12288-019-01205-7

2. Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D, Naidu JM, Britt RP, Vulliamy TJ, Luzzatto L, Mason PJ (1995) A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-Gly), is the major polymorphic variant in tribal populations in India. Am J Hum Genet 57:1335–1341

3. Hue NT, Charlieu JP, Chau TT, Day N, Farrar JJ, Hien TT, Dunstan SJ (2009) Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. Malar J 8:152

4. Leiden Open Variation Database for G6PD. https://databases.lovd.nl/shared/variants/G6PD/unique. Accessed 12 Mar 2020

5. Sukumar S, Mukherjee MB, Colah RB, Mohanty D (2004) Molecular basis of G6PD deficiency in India. Blood Cells Mol Dis 33:141–145

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