Additionally, recent reports have described DBA-causing mutations in factors involved in RP transport and assembly (e.g., TSR2 and HEATR3) (4–10) and in regulators of these functions (certain allelic variants of GATA1, EPO, and p53 are associated with a DBA-like phenotype). The gene discussed is HEATR3; the disease is Diamond-Blackfan anemia.