The most well characterized is Diamond Blackfan anemia (DBA), which results from haploinsufficiencies in several different RP genes (RPS24/eS24, RPS17/eS17, RPL35A/eL33, RPL5/uL18, RPL11/uL5, RPS7/eS7, RPL36/eL36, RPS15/uS19, RPS27A/eS31) and RPS19/eS19, which is mutated in 25% of patients (Narla & Ebert, 2010). This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.