Article
Animal models of Diamond-Blackfan anemia: updates and challenges.
Haematologica - 1 May 2023
Liu Y Lucy, Shibuya Aya, Glader Bert, Wilkes Mark C, Barna Maria, Sakamoto Kathleen M
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a ribosomopathy that is characterized by macrocytic anemia, congenital malformations, and early onset during childhood. Genetic studies have demonstrated that most patients carry mutations in one of the 20 related genes, most of which encode ribosomal proteins (RP). Treatment of DBA includes corticosteroid therapy, chronic red blood cell transfusion, and other forms of...
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