[citation needed] The symptoms and signs of congenital dyserythropoietic anemia are consistent with:[2] The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I,[10] II,[11] III[12] and IV ( is a relatively new form of CDA that had been found, just 4 cases have been reported[9]) according to the genetic testing registry.

[citation needed] In addition, they must undertake chelation therapy to survive;[13] either deferoxamine, deferasirox, or deferiprone to eliminate the excess iron that accumulates.

[14] Gene therapy, as well as, bone marrow transplant are also possible treatments for the disorder, but each have their own risks at this point in time.

Bone marrow transplantation is the more used method between the two, whereas researchers are still trying to definitively establish the results of gene therapy treatment.

This type of therapy has promise, however, as it allows for the autologous transplantation of the patient's own healthy stem cells rather than requiring an outside donor, thereby bypassing any potential for graft vs. host disease (GVHD).