Molecular basis of Diamond-Blackfan anaemia: what have we learnt so far? Review article.

Abstract

A considerable progress has been made in the last three years in the uncovering of the molecular basis of Diamond-Blackfan anaemia (DBA). Two genetic loci on 19q13.2 and 8p23 chromosomes have been associated with the DBA phenotype, and the ribosomal protein S19 (RP S19) located at 19q has been found mutated in 25% of DBA patients. In this review we will outline possible mechanisms of how mutations in RP S19 might lead to the DBA phenotype, we will discuss candidate genes on 8p23 chromosome, and finally, a complex molecular model of DBA development will be proposed.