Molecular Characterization of G6PD Deficiency at a North Indian Centre: Implications for Diagnostic Testing Laboratories
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CORRESPONDENCE
Molecular Characterization of G6PD Deficiency at a North Indian Centre: Implications for Diagnostic Testing Laboratories in Different Regions of India Namrata Singh1 • Alpeshkumar Bipinbhai Kapadia1 • Prashant Sharma1 • Reena Das1 • Karuna Jain1 • Man Updesh Singh Sachdeva1 • Alka Rani Khadwal2 Amanjit Bal3 • Neelam Varma1
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Received: 27 November 2019 / Accepted: 17 March 2020 Ó Indian Society of Hematology and Blood Transfusion 2020
Sir, We read with interest the informative paper by Arunachalam et al. [1] from Vellore, Tamil Nadu on molecular basis of G6PD-deficiency and would like to compare their results with our recent experiences in a north Indian setting. In their genetic study of 24 patients, Arunachalam et al. [1] identified mutations in 21 (87.5%). These included 6, 3 and 2 patients with G6PD Orissa, Mediterranean and Bangkok respectively and 1 each with G6PD Andalus, Chatham, Kerala-Kalyan, Mahidol, Namouru and Nashville. Novel mutations were detected in 4 patients and no mutations in 3 cases [1]. In Chandigarh, we enrolled 22 patients: 18 G6PD-deficient males and 4 suspected female heterozygotes based on screening methemoglobin reduction tests (methylene blue as well as Nile blue sulfate-based) and quantitative enzyme activity assay (EnzopakTM kit, Reckon Diagnostics, Vadodara). Genomic DNA was isolated using the QIAampTM DNA Blood Mini kit. Restriction fragment length polymorphism (RFLP) analysis was initially done in all 22 patients for G6PD-Mediterranean [rs5030868; NM_000402.4(G6PD):c.653C [ T (p.Ser218Phe); GRCh37: ChrX:153762634] using MboII restriction enzyme after & Prashant Sharma [email protected]; [email protected] 1
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India
2
Adult Clinical Hematology Unit, Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
amplification using previously described primers [2]. G6PD Mediterranean was found in 14 patients (11 hemizygous males and 3 heterozygous females). The remaining eight patients underwent PCR–RFLP with HaeIII for G6PD-Orissa [rs78478128; c.221C [ G (p.Ala74Gly); GRCh37: ChrX:153764383] using primers described previously [2]. Two further patients, all males, were hemizygous for G6PD-Orissa. In the remaining six unsolved cases, Sanger sequencing of exon 9 was done using previously described primers [3]. This revealed G6PD-Chatham [rs5030869; c.1093G [ A (p.Ala365Thr); GRCh37: ChrX:153761205] in two males. This region also covered G6PDs Kerala/Kalyan, Jammu/Viangchan and Betica/Guantanamo/Selma, of which none were found [4]. Four cases (3 males, 1 female) remained unresolved at a genetic level. G6PD deficiency was first reported in India in 1963 and frequencies vary widely from 0 to nearly 30% between different ethnicities, linguistic groups and castes [2]. Mo
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