Diamond Blackfan anemia is caused by changes (mutations) in ribosomal protein genes in about 80-85% of those affected. In the remaining 10-15% of patients, no abnormal genes have yet been identified.
A mutation in the RPS19 gene is the cause of DBA in about 25% of patients. Mutations have also been found in RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26, and rarely in RPL15, RPL17, RPL19, RPL26, RPL27, RPL31, RPS15A, RPS20, RPS27, RPS28, RPS29, and TSR2. In a few patients, the disease is caused by a mutation in the GATA1 gene.
DBA caused by the ribosomal protein gene mutation follows autosomal dominant inheritance.