This study was aimed to explore the mutations of ribosomal protein (RP) genes in 
patients with Diamond Blackfan anemia (DBA). Twenty-one cases of DBA admitted in 
our hospital from Dec 2008 to Aug 2012 were screened by PCR for mutations in the 
nine known genes associated with DBA: RPS19, RPS24, RPS17, RPL5, RPL11, RPS7, 
RPL35a, RPS10 and RPS26. The results found that 8 patients (38.1%) with DBA had 
mutations in the genes coding for ribosomal protein, in which RPS19 mutation was 
identified in 3 patients, RPS24, RPS7, RPL5, RPL11 and RPL35A mutations were 
identified respectively in 1 of the patient. No mutations were detected in 
RPS17, RPS10 or RPS26 genes. Thumb anomalies were found in 2 patients with RPL11 
or RPL5 mutation, and hypospadias was found in 1 patient with RPS19 mutation. It 
is concluded that the mutation frequency of the genes coding for ribosomal 
protein in the patients with DBA here is lower than that in western countries. 
The hypospadias can be observed in some patients with RPS19 mutation and some 
dactyl anomalies are associated with RPL11 and RPL5 mutations.