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 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 ca rried out after long deliberation, based in large part on recently reviewed data2,3 that Geck et al.1 have also analyzed.

Source: The American Journal of Human Genetics - November 2, 2023 Category: Genetics & Stem Cells Authors: Lucio Luzzatto, Caterina Nannelli, Rosario Notaro Tags: Letter to the editor Source Type: research