Potentially pathogenic and pathogenic G6PD variants

In their interesting and comprehensive paper in the February 2, 2023 issue of this journal, Geck et al. 1 Geck R.C. Powell N.R. Dunham M.J. Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants. Am J Hum Genet. 2023; 110: 228-239 Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar have illustrated several aspects of genetic variation at the X-linked G6PD locus that is rather unique in terms of its clinical and public health implications. Their analysis supports the recently revised WHO classification: this is gratifying and not surprising, since the WHO revision was carried out after long deliberation, based in large part on recently reviewed data 2 Pfeffer D.A. Satyagraha A.W. Sadhewa A. Alam M.S. Bancone G. Boum 2nd, Y. Brito M. Cui L. Deng Z. Domingo G.J. et al. Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis. Pathogens. 2022; 14: 1045 Crossref Scopus (7) Google Scholar ,3 Nannelli C. Bosman A. Cunningham J. Dugue A.P. Luzzatto L. Genetics of variants causing G6PD deficiency: biohcemical and clinical data support new WHO classification. British Journal of Haematology. 2023; (Jul 6)https://doi.org/10.1111/bjh.18943 Crossref Scopus (1) Google Scholar that Geck et al. 1 Geck R.C. Powell N.R. Dunham M.J. Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants. Am J Hum Genet. 2023; 110: 228-239 Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar have also analyzed. Response to Luzzatto et al.Geck et al.The American Journal of Human GeneticsNovember 02, 2023In BriefTo the editor: In the last few years, updates to G6PD variant interpretation and drug use guidelines have been published, highlighting the importance and continued interest in connecting G6PD variation with G6PD deficiency, chronic anemia, and risk of adverse drug reactions. However, many challenges remain for G6PD variant interpretation, including those raised by Luzzatto et al.1 Full-Text PDF