Diamond-Blackfan anemia

Diamond–Blackfan anemia
Classification and external resources
Specialty	hematology
ICD-10	D61.0
ICD-9-CM	284.01
OMIM	105650
eMedicine	article/205695-overview/
Patient UK	Diamond–Blackfan anemia
MeSH	D029503
[]

Diamond–Blackfan anemia (DBA), also known as Blackfan-Diamond anemia, inherited pure red cell aplasia and as inherited erythroblastopenia, is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually 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.

A variety of other congenital abnormalities may also occur in DBA.

Diamond–Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth delay are sometimes observed. DBA patients have a modest risk of developing leukemia and other malignancies.

...
Wikipedia