Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants
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ORIGINAL ARTICLE
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants Arun Kumar Arunachalam1 • S. Sumithra1 • Madhavi Maddali1 • N. A. Fouzia2 Aby Abraham2 • Biju George2 • Eunice S. Edison1
•
Received: 24 April 2019 / Accepted: 30 September 2019 Ó Indian Society of Hematology and Blood Transfusion 2019
Abstract G6PD deficiency is a monogenic, X-linked genetic defect with a worldwide prevalence of around 400 million people and an overall prevalence of 8.5% in India. Hemolytic anemia is encountered in only a small proportion of patients with G6PD variants and is usually triggered by some exogenous agent. Although G6PD deficiency was reported in India more than 50 years ago, there are very few studies on molecular characterization and phenotypic correlation in G6PD deficient patients. We aimed to study the epidemiology and correlate the phenotypic expression with molecular genotypes in symptomatic G6PD deficient patients. All symptomatic hemolytic anaemia patients with
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12288-019-01205-7) contains supplementary material, which is available to authorized users. & Eunice S. Edison [email protected] Arun Kumar Arunachalam [email protected] S. Sumithra [email protected] Madhavi Maddali [email protected] N. A. Fouzia [email protected] Aby Abraham [email protected] Biju George [email protected] 1
Department of Haematology, Christian Medical College, OT Building, 4th Floor, Vellore, Tamil Nadu 632004, India
2
Department of Hematology, Christian Medical College, OT Building, 1st Floor, Vellore, Tamil Nadu 632004, India
a possible etiology of G6PD deficiency based on the clinical, hematological and biochemical parameters and reduced G6PD enzyme levels were included in this study. Molecular analysis of the G6PD gene was done by direct Sanger sequencing. From a total of 38 patients with hemolytic anemia suspected for G6PD deficiency, 24 patients had reduced G6PD enzyme levels and were included for the molecular analysis and mutations in the G6PD gene were identified in 21 of them (83.3%). The different mutations identified in our study include 6 patients with c.131C [ G (G6PD Orissa), 3 patients with c.563C [ T (G6PD Mediterranean), two patients with c.825G [ T (G6PD Bangkok), one patient each with c.208T [ C (G6PD Namouru), c.487G [ A (G6PD Mahidol), c.949G [ A (G6PD Kerala-Kalyan), c.100 G [ A (G6PD Chatham), c.1178C [ G (G6PD Nashville), c.1361 G [ A (G6PD Andalus) and 4 patients with novel mutations (2 patients with c.1186C [ T and 1 patient each with c.1288-2A [ T and c.1372C [ T. No disease causing genetic variants were identified in the other three cases. Co-inheritance of other red cell and hemoglobin disorders can modify the clinical phenotype of G6PD patients and the diagnostic accuracy can be improved by molecular characterization of the variant. Keywords G6PD Mutations De novo Lyonisation
Introduction G6PD catalyses the conversion of
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