BLOC1S3 and Diamond-Blackfan anemia: Since the alterations of pre‐rRNA processing cause the accumulation of specific rRNA precursors depending on the mutated RP gene (Boria et al., 2010; Farrar et al., 2014; Flygare et al., 2007), pre‐rRNA analysis has been proposed as a potential aid for making a DBA diagnosis (Farrar et al., 2014; Quarello et al., 2016).