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Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants

Arun Kumar Arunachalam1, S Sumithra1, Madhavi Maddali1

  • 11Department of Haematology, Christian Medical College, OT Building, 4th Floor, Vellore, Tamil Nadu 632004 India.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|May 20, 2020
PubMed

Insights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in India. Molecular analysis identified G6PD gene mutations in 83.3% of symptomatic patients, aiding in understanding disease presentation.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder affecting approximately 400 million people globally, with an 8.5% prevalence in India.
  • While G6PD deficiency is widespread, symptomatic hemolytic anemia occurs in a small subset of patients, often triggered by external factors.
  • Limited molecular characterization and phenotypic correlation studies exist for G6PD deficient patients in India, despite its historical reporting.

Purpose of the Study:

  • To investigate the epidemiology of G6PD deficiency in India.
  • To correlate the phenotypic expression of G6PD deficiency with molecular genotypes in symptomatic patients.
  • To identify specific G6PD gene mutations prevalent in the Indian population presenting with hemolytic anemia.

Main Methods:

  • Study included symptomatic hemolytic anemia patients with suspected G6PD deficiency, confirmed by reduced G6PD enzyme levels.
  • Molecular analysis of the G6PD gene was performed using direct Sanger sequencing.
  • Genotyping identified specific mutations and novel variants within the G6PD gene.

Main Results:

  • Out of 38 patients with suspected G6PD deficiency, 24 had reduced enzyme levels and underwent molecular analysis.
  • G6PD gene mutations were identified in 21 of these 24 patients (83.3%).
  • Identified mutations included known variants (G6PD Orissa, Mediterranean, Bangkok, etc.) and four novel mutations, with no pathogenic variants found in three cases.

Conclusions:

  • Molecular characterization is crucial for understanding the genotypic basis of G6PD deficiency in symptomatic Indian patients.
  • The study identified a high prevalence of G6PD gene mutations in patients with suspected deficiency and hemolytic anemia.
  • Co-inheritance of other red cell disorders can influence clinical presentation, highlighting the importance of molecular diagnostics for accurate diagnosis and management.

Keywords:
De novoG6PDLyonisationMutations

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