DiamondBlackfan
Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by failure of erythroid progenitors in the
Genetics play a major role in DBA. Most cases are autosomal dominant with variable penetrance, and a
Pathophysiology involves defective ribosome biogenesis due to mutant ribosomal proteins, which impairs erythropoiesis and may activate
Diagnosis is based on clinical presentation, hematologic findings, and bone marrow analysis showing erythroid hypoplasia with
Treatment and prognosis: First-line therapy is corticosteroids, which induce hematologic responses in a substantial portion of
History: The condition is named after Louis K. Diamond and Louise T. Blackfan, who first described the