• Childhood Aplastic Anemia

    The bone marrow produces all blood cells: red blood cells, white blood cells and platelets. Red blood cells contain the protein hemoglobin that carries oxygen from the lungs to tissues. White blood cells fight infection. Platelets are important for blood to clot.

    Aplastic anemia occurs when the bone marrow produces too few of these cells. Too few red blood cells lead to a decrease in hemoglobin and symptoms of fatigue. A reduced number of neutrophils (a major type of white blood cell important for defense against bacterial and fungal infections) increases susceptibility to infection. Too few platelets leads to increased risk of bleeding or bruising.

    Aplastic Anemia Treatment at Dana-Farber/Boston Children's

    Children and young adults with aplastic anemia are treated at Dana-Farber/Boston Children's through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments. 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 aplastic anemia.

    What causes aplastic anemia in children?

    Aplastic anemia in children has multiple causes, but many causes are “idiopathic”, meaning they occur for no known reason. Other causes are secondary, resulting from a previous illness or disorder.

    Acquired causes may include: a history of specific infectious diseases such as hepatitis, Epstein-Barr virus (EBV), cytomegalovirus (CMV), or human immunodeficiency virus (HIV), a history of taking certain medications, exposure to certain toxins such as benzine, or exposure to radiation.

    Children may also inherit a disorder that predisposes them to developing aplastic anemia. Some examples include

    What are the symptoms of childhood aplastic anemia?

    The symptoms of aplastic anemia may resemble those of other blood disorders or medical problems. Each child may experience symptoms differently, but the most common symptoms of aplastic anemia include:

    • Lack of energy or tiring easily (fatigue)
    • Shortness of breath
    • Pale skin, lips, and hands, or paleness under the eyelids
    • Bruising, or a red or purple pinpoint rash on the face or body
    • Bleeding (for example bleeding gums, nosebleeds, blood in the stool)
    • Fevers/infections

    How is childhood aplastic anemia diagnosed?

    In addition to a complete medical history and physical examination, diagnostic procedures for aplastic anemia may include:

    • Blood tests, including a complete blood count
    • Bone marrow aspiration and biopsy — marrow may be removed by aspiration and a needle biopsy under local anesthesia and conscious sedation so that the child remains calm and comfortable during the procedure. In a bone marrow aspiration, a fluid specimen is removed from the bone marrow. In a needle biopsy, marrow cells (not fluid) are removed. These methods are always used together.

    Additional blood tests and genetic testing may be ordered to rule out certain inherited types of anemia and other disorders such as myelodysplastic syndrome.

    After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then, we meet with you and your family to discuss the results and outline the best treatment options for your child’s aplastic anemia.

    What is the treatment for childhood aplastic anemia?

    Specific treatment for aplastic anemia will be determined by your child’s physician based on:

    • Your child’s age, overall health, and medical history
    • Extent of the disease
    • Your child’s tolerance for specific medications, procedures, or therapies
    • Expectations for the course of bone marrow failure
    • Your opinion or preference

    Treatment options include, but are not limited to the following:

    • Stem Cell (Bone Marrow) Transplant: At present, this is the only cure for aplastic anemia. Bone marrow transplant involves the replacement of diseased bone marrow with another person’s healthy bone marrow. Unfortunately it may not be an option for everyone. The success of a transplant depends on many factors, such as how close the match is between child and donor (matched siblings are best; if your child has a sibling, there is a 1 in 4 chance they will be a match) and the patient's age. The degree to which your child's bone marrow has failed also factors into the discussion whether to pursue a transplant. The decision to proceed with bone marrow transplant should be discussed with your child’s hematologist and a stem cell transplant team.
    • Immunosuppressive Therapy: This is the standard drug therapy for aplastic anemia. It is based on the theory that aplastic anemia is caused by the immune system reacting against the bone marrow. Therefore, immunosuppressive drugs “put down” the immune response and allow the bone marrow to make blood again. The drugs used, anti-thymocyte globulin (ATG) and cyclosporine (CsA), may also have other effects that allow the bone marrow to make blood effectively again. ATG/CsA therapy for aplastic anemia is not a fast process. It can take three to six months for the treatment to have an effect. During that time, your child will need frequent supportive care, such as red blood cell or platelet transfusions and antibiotics. Children with aplastic anemia treated with immunosuppressive therapy also need life-long follow-up care from a hematologist.
    • Treating an underlying disorder: In rare cases aplastic anemia is caused from a previous illness or disorder. If this problem can be identified and treated, there are cases in which the aplastic anemia will improve.
    • Additional treatment alternatives are currently being studied and may be available through clinical trials.
    • Supportive Care: In addition to treatment, supportive care helps the symptoms of aplastic anemia (fatigue, bleeding, infections, etc.). Examples include blood transfusion (both red cells and platelets), preventative antibiotic therapy, medications that stimulate the body to make more white blood cells, and behavioral interventions like thorough hand washing and avoiding large crowds or people who are known to have fevers or illness.

    What is the latest research on aplastic anemia?

    The Bone Marrow Failure Program at Dana-Farber/Boston Children's
    In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with inherited (genetic) and acquired bone marrow failure syndromes, including aplastic anemia.

    Our researchers are actively collecting samples of blood and bone marrow (voluntary) from patients with aplastic anemia and other bone marrow failure syndromes in order to better understand genetic and molecular aspects of the diseases, and clinical outcomes of patients.

    We are also interested in studying new drugs that may help children with aplastic anemia. For instance, a new drug called eltrombopag has shown promise in treating adults with aplastic anemia. We are considering a trial to investigate its use in the treatment of children.

    Aplastic Anemia & MDS International Foundation, Inc.
    This foundation, formed in 1983 by concerned parents and medical professionals, maintains a patient registry of children, adolescents, and adults with aplastic anemia. Enrollment is voluntary and serves to help researchers compile data about the disease. For more information, including information about clinical trials, visit www.aplastic.org.

    More about clinical trials
    For many children with rare or hard-to-treat conditions, clinical trials provide new options.

    Contact us: If you’re not sure which clinical trials might be right for your child, email us at clinicaltrials@danafarberbostonchildrens.org. We can help you navigate your options.

    What is the long-term outlook for children with aplastic anemia?

    Aplastic anemia was once fatal in many cases. Today, therapies like stem cell transplant can cure aplastic anemia in the great majority of children with either a tissue-matched sibling donor or, in many patients, a matched unrelated donor. However, stem cell transplant carries risks such as infection and graft-versus-host disease.

    For children with aplastic anemia who do not have suitable donors, medical treatment can bring blood counts back to normal in approximately two thirds of cases. While their blood counts may remain normal for many years—allowing them to return to all normal activities—laboratory tests show that the disease may never completely go away. If aplastic anemia recurs, other treatments are available.

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