Response to Luzzatto et al.

To 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 Luzzatto L. Nannelli C. Notaro R. Potentially pathogenic and pathogenic G6PD variants. Am. J. Hum. Genet. 2023; 110: 1983-1985 Google Scholar Potentially pathogenic and pathogenic G6PD variantsLuzzatto et al.The American Journal of Human GeneticsNovember 02, 2023In BriefIn their interesting and comprehensive paper in the February 2, 2023 issue of this journal, Geck et al.1 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 data2,3 that Geck et al.1 have also analyzed. Full-Text PDF