Furthermore, the observed changes in RBC survival (Fig. 5) are in line with findings from murine SOD1 KO models, where anaemia with decreased RBC lifespan and increased average erythrocyte sizes were accompanied by significantly decreased RBC-GPx activity and protein levels.54 From a therapeutic perspective, treatment with the GSH precursor N-acetylcysteine55 improved anaemic symptoms,54 as well as other symptoms in SOD1 knockout models56 and might be a promising approach to treat symptoms observed in the patients studied here. This evidence concerns the gene SOD1 and anemia (phenotype).