Clinical features and genetics of the congenital dyserythropoietic anemias

CDA: congenital dyserythropoietic anemia; AR: autosomal recessive; AD: autosomal dominant; Hgb F: fetal hemoglobin; XLTDA: X-linked thrombocytopenia with or without dyserythropoietic; RBC: red blood cell; LDH: lactate dehydrogenase.
* Evidence of hemolysis may include abnormalities on biochemical tests (eg, elevated indirect bilirubin, elevated LDH, etc) and/or clinical findings (eg, jaundice). Patients with type II and type IV CDA may also have splenomegaly, whereas splenomegaly is not a characteristic finding in type III CDA.
¶ An X-linked dominant macrocytic dyserythropoietic anemia similar to CDA has been described in females with heterogenous mutations in the ALAS2 gene. ALAS2 is also the causative gene of X-linked sideroblastic anemia in males.