• Sickle Cell Disease in Children

    sickle cell imageA research team from Dana-Farber/Boston
    Children's and other institutions has discovered
    new genetic target for potential therapy of
    sickle cell disease

    Sickle cell disease is an inherited disorder that occurs when a protein called hemoglobin is defective. Hemoglobin carries oxygen-rich red blood cells from the lungs to the rest of the body.

    Normal blood cells are smooth, round, flexible and shaped like the letter O. With SCD, these cells can become stiff, sticky and shaped like the letter C. These sickle-shaped cells tend to cluster together, making it difficult for them to move through small blood vessels and stopping the movement of healthy, oxygen-carrying cells. Sickle cells can also damage the spleen, increasing the risk of bacterial infection.

    Pediatric Sickle Cell Disease Treatment at Dana-Farber/Boston Children's

    The Dana-Farber/Boston Children's Sickle Cell Disease Program treats children and young adults with all types of sickle cell disease. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for sickle cell disease.

    At Dana-Farber/Boston Children's, all children with sickle cell disease and other serious blood disorders are assigned a social worker to help manage the challenges of ongoing treatment. Social workers provide emotional, psychological and logistical support to patients and families from diagnosis to adulthood.

    Symptoms & Diagnosis

    There are several types of sickle cell disease:

    • HbSS (sickle cell anemia) – the most common and most severe form of sickle cell disease
    • HbAS (sickle cell trait A)
    • HbSC (sickle cell with hemoglobin C disease)
    • HbS beta thalessemia (hemoglobin S beta thalessemia)

    HbSD, HbSE and HbSO are rare types of SCD, with symptoms similar to HbSS.

    SCD primarily affects children of African descent and Hispanics of Caribbean ancestry. It also occurs in children of Middle Eastern and Indian descent.

    The most common symptoms of sickle cell disease include:

    • Anemia – the most common symptom
    • Pain crises – develop when sickle-shaped cells block blood flow through tiny blood vessels to the chest, abdomen or joints
    • Dactylitis – swelling of the hands and feet
    • Frequent infections – from damage to the spleen
    • Delayed growth and/or puberty
    • Vision problems – from blocked blood vessels to the eyes

    Early diagnosis of sickle cell disease is essential for providing proper treatment to prevent potentially devastating complications. Most cases of sickle cell disease are identified through newborn screening in the first days of life, which is required in most states. A hemoglobin electrophoresis blood test can measure different types of hemoglobin in the blood.

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

    Treatment & Care Options

    A stem cell transplant is the only cure for SCD, but it carries risks. Other treatments, which are aimed at relieving symptoms or preventing complications, include:

    • Prevention of infection – preventive penicillin before age 5 and routine vaccinations
    • Hydroxyurea therapy – an oral medication that can decrease the frequency and severity of pain crises
    • Blood transfusion / iron chelation – to prevent severe anemia and risk of stroke. Iron chelation is often required to prevent iron toxicity from chronic blood transfusions

    Progressive or Recurrent Disease

    SCD is a lifelong condition requiring ongoing management. There is no recurrent form of the disease.

    Long-term Outlook

    New treatments are prolonging and improving quality of life for patients with sickle cell disease. With life expectancy reaching 50 years, older patients face medical problems related to the adverse effects of the disease, including long-term damage to major organs and stroke.
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  • Treating Sickle Cell Disease

    Dr. Matthew Heeney, Director of the Blood Disorders Center and clinical leader of the Sickle Cell Program, shares his care philosophy for patients suffering from and coping with sickle cell disease.