BLOC1S3 and Diamond-Blackfan anemia: The ribosomopathy Diamond Blackfan Anemia (DBA) most commonly results from heterozygosity for mutations in Rp genes, and is characterized by early onset anemia, cancer predisposition, and sometimes diminished growth and skeletal defects (Draptchinskaia et al., 1999; Choesmel et al., 2007; Danilova and Gazda, 2015; Da Costa et al., 2018).