Human genes for Diamond-Blackfan anemia
Diamond-Blackfan anemia [DOID:1339]
Diamond–Blackfan anemia (DBA), also known as Blackfan–Diamond anemia and Inherited erythroblastopenia, is a congenital erythroid aplasia that usually presents in infancy. DBA patients have low red blood cell counts (anemia). The rest of their blood cells (the platelets and the white blood cells) are normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia.
Synonyms: Diamond-Blackfan anemia, DOID:1339, DiamondBlackfan anemia, Anemia, Diamond-Blackfan, Blackfan - Diamond syndrome ...