• Congenital Dyserythropoietic Anemia Overview

    Congenital dyserythropoietic anemia (CDA) is a group of rare inherited disorders characterized by ineffective erythropoiesis, the process by which red blood cells (RBC) are produced. They result in a decrease in the number of red blood cells in the body and a less than normal quantity of hemoglobin, which carries oxygen in the body.

    There are three major types of CDA (types 1, 2 and 3). Type 2 is the most frequent, while type 3 is the most rare. Signs and symptoms of CDA can be highly variable, and usually patients display signs of anemia (see below). CDAs can be diagnosed at any age (infancy, childhood, adolescence, adulthood), depending on the severity of the anemia. Sometimes patients may show no symptoms and be diagnosed at a routine medical or through tests done for other conditions. Often, patients with CDA may absorb too much iron into their body. Iron is required by the body to produce RBC with hemoglobin. This excess iron can be harmful and constitute an important medical issue for patients with CDA and sometimes requires lifelong treatment.

    Congenital Dyserythropoietic Anemia Treatment at Dana-Farber/Boston Children’s

    Children and adolescents and with congenital dyserythropoietic anemia (CDA) are treated at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center through our Rare Anemias and Iron Disorders Program. Continue reading to learn more about congenital dyserythropoietic anemia or visit the Rare Anemias and Iron Disorders Program page to learn about our expertise and treatment options.

    Symptoms & Diagnosis

    The most common symptoms of CDA include:

    • Fatigue
    • Lack of energy
    • Jaundice
    • Pale skin (pallor)
    • Enlarged spleen or liver 
    • Formation of gallstones  
    • Skeletal abnormalities, including missing fingers and toes 

    CDA is diagnosed with:

    • Blood tests, including a complete blood count
    • Bone marrow examination
    • Serum bilirubin test, which can determine the cause of jaundice and detect increased destruction of RBC
    • Body iron measurements (by laboratory testing, radiology/imaging and/or biopsy of the liver)
    • Molecular testing (gene sequencing, protein studies, etc). 

    After all tests are completed, doctors will be able to outline the best treatment options.

    Treatment & Care

    Depending on the severity of the disease and the symptoms experienced by the patients, doctors treat CDA with:

    • Blood transfusions and apheresis
    • Medications, such as iron chelating agents or interferon alpha-2A (only in CDA type I)
    • Selected surgical procedures (removal of the spleen and/or gallbladder), when required
    • Stem cell transplant—the only definitive cure, available to patients with very severe CDA

    Long-term Outlook

    Because there is no definitive cure other than a hematopoietic stem cell transplant, children and adolescents with CDA require long-term follow-up to monitor for complications. Liver, hormonal (endocrine) and heart problems become increasingly important as patients grow older, due to the stress of low hemoglobin counts and high iron content.