Diamond-Blackfan anemia (DBA) is a congenital blood disorder that is caused by the inability of the bone marrow to produce red blood cells. It is usually diagnosed in early infancy and affects both sexes with no specific predisposition to any ethnic group. Presenting features in infants are pallor and dyspnea mainly whilst feeding or sucking. Symptoms other than anemia, including short stature, urogenital abnormalities, fatigue, and craniofacial abnormalities may be present in about 50% of DBA patients. Treatment of DBA involves therapeutic approaches including regular transfusions, bone marrow/stem cell transplantation and long term corticosteroid therapy. Patients suffering from DBA are at higher risk of developing leukemia and other types of cancers.
DBA originate due to heterozygous mutations in the genes encoding ribosomal proteins, either within the small (RPS7, RPS17, RPS19, RPS24) or the large (RPL5, RPL11, RPL35a) ribosomal subunit. The most frequently observed mutations occur in RPS19, RPL5, and RPL11, comprising 25%, 9%, and 6.5% of the patients, respectively, while only 1-3% of cases are caused by other genes.