Diamond–Blackfan anaemia

Diamond–Blackfan anaemia (DBA) has had an intellectual allure for decades for clinical and experimental haematologists. The syndrome has a haematological phenotype of early-onset red-cell aplasia but is coupled with a baffling array of pleiotropy. There is discordance with modes of inheritance, physical anomalies, erythropoietic response to corticosteroid therapy, spontaneous ‘remissions’, and evolution to malignant myeloid transformation and to cancer. The recent discovery of two genes associated with DBA is the entry point for explaining the diversity of the phenotype and for understanding the molecular basis of the syndrome.