Typically, a diagnosis of DBA is made through a blood count and a bone marrow biopsy. A diagnosis of DBA is made on the basis of anemia, low reticulocyte (immature red blood cells) counts, and diminished erythroid precursors in bone marrow. Features that support a diagnosis of DBA include the presence of congenital abnormalities, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells. Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified.About 20–25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene.
Diamond–Blackfan anemia
Fanconi anemia
Beta thalassemia
Delta-beta thalassemia
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type IV
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III