• Red Blood Cell Disorders Overview

    Red blood cell (RBC) disorders are conditions that affect red blood cells, the cells of blood that carry oxygen from the lungs to all parts of the body.  There are many different types of red blood cell disorders, including:

    • Anemia 
    • Red cell enzyme deficiencies (e.g. G6PD)
    • Red cell membrane disorders (e.g. hereditary spherocytosis) 
    • Hemoglobinopathies (e.g. sickle cell disease and thalassemia
    • Hemolytic anemia 
    • Nutritional anemias (e.g. iron deficiency anemia, and folate deficiency)
    • Disorders of Heme production (e.g. sideroblastic anemia)
    • Polycythemia (too many red blood cells)
    • Hemochromatosis 

    Red Blood Cell Disorder Treatment at Dana-Farber/Boston Children's

    Patients with RBC disorders are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Sickle Cell Program, Thalassemia Program, or our Rare Anemias & Iron Disorders Program. Continue reading to learn more about anemia or visit these program homepages to learn about our expertise and treatment options for these conditions.

    Symptoms & Diagnosis

    Symptoms depend on the type of RBC disorder a child has. Some common general symptoms of anemia include:

    • Pale lips, skin and hands
    • Fatigue
    • Lack of energy
    • Decreased exercise tolerance
    • Irritability

    Common symptoms of hemolysis (increased red blood cell breakdown) include:

    • Jaundice
    • Scleral icterus (yellow eyes)
    • Enlarged spleen
    • Gallstones

    RBC disorders may be suspected based on the general findings of a complete medical history and physical exam. Depending on the type of RBC disorder a child has, her doctor may order a variety of blood and genetic tests to confirm the diagnosis.

    Treatment & Care Options

    Treatment largely depends on the specific type of RBC that is present and may include:

    • Nutritional supplements (e.g. iron, folate, vitamin B12)
    • Splenectomy – surgical removal of the spleen
    • Medications to alter the immune system (e.g. corticosteroids, intravenous immunoglobulin)
    • Hydroxyurea therapy for sickle cell disease.
    • Blood transfusions

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

    Long-term Outlook

    The long-term outlook for children with RBC disorders depends on the specific type of disorder. Many children with these diseases can be successfully treated. Certain disorders can increase the risk for damage or deficits to other organ systems (e.g. neurological deficits in polycythemia, or liver damage in hemochromatosis.
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  • Treating Blood Disorders

    Dana-Farber/Boston Children's patients with blood disorders have access to a variety of treatment options, including blood transfusions, surgery, advanced new medications and stem cell transplant.