Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents 
during infancy. Approximately 40% of cases are associated with other congenital 
defects, particularly malformations of the upper limb or craniofacial region. 
Mutations in the gene coding for the ribosomal protein RPS19 have been 
identified in 25% of patients with DBA, with resulting impairment of 18S rRNA 
processing and 40S ribosomal subunit formation. Moreover, mutations in other 
ribosomal protein coding genes account for about 25% of other DBA cases. 
Recently, the analysis of mice from which the gene coding for the heme exporter 
Feline Leukemia Virus subgroup C Receptor (FLVCR1) is deleted suggested that 
this gene may be involved in the pathogenesis of DBA. FLVCR1-null mice show a 
phenotype resembling that of DBA patients, including erythroid failure and 
malformations. Interestingly, some DBA patients have disease linkage to 
chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that 
cells from DBA patients express alternatively spliced isoforms of FLVCR1 which 
encode non-functional proteins. Herein, we review the known roles of RPS19 and 
FLVCR1 in ribosome function and heme metabolism respectively, and discuss how 
the deficiency of a ribosomal protein or of a heme exporter may result in the 
same phenotype.