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Fanconi Anemia

  • Fanconi anemia (FA) is a rare, inherited blood disorder caused by mutations in any number of at least 14 genes. These mutations make it hard for blood stem cells (and other cells in the body) to detect and repair damage to their DNA, causing the bone marrow to fail.

    Children with the disorder may have several physical abnormalities in addition to bone marrow failure and an increased risk of developing cancer. FA is a severe lifelong condition that requires ongoing medical treatment.

    How Dana-Farber/Boston Children’s Cancer and Blood Disorders Center approaches Fanconi anemia

    Experts in our Bone Marrow Failure Program provide compassionate, patient- and family-centered care to young patients with FA and bone marrow failure syndromes. Our unique services include:

    • Two experienced pediatric hematologists, Colin Sieff, MBBCh, and David A. Williams, MD, oversee the Program.
    • Our team includes doctors from other departments within the hospital, each of whom is familiar with the implications of FA in their specialty area.
    • Our research is focused on increasing our molecular understanding of FA, as well as improvements in diagnosis and treatment.
    • We offer multiple clinical trials for FA patients.
    • We work as part of one team with the Dana-Farber/Boston Children’s Stem Cell Transplant Center, which is familiar with and has experience performing hematopoietic stem cell transplants as a way of treating Fanconi anemia in children.

    “Fanconi anemia is a complex disease. At our multidisciplinary clinic, children are not only seen by hematologists but also can be seen by geneticists, cardiologists, kidney experts and hand surgeons. Essentially, any kind of expertise that's needed, we provide in our clinic”.  -David A. Williams, MD, co-director of the Bone Marrow Failure Program


  • What is Fanconi anemia?

    Fanconi anemia (FA) is a rare, inherited blood disorder. Children with FA almost always develop to aplastic anemia (bone marrow failure) and may have an increased risk of developing cancer.

    Is Fanconi anemia common?

    FA is a rare disorder that occurs in about one in every 360,000 children born in the United States. It occurs equally in boys and girls and has been identified in all ethnic groups.

    Causes

    What causes Fanconi anemia?

    FA is an inherited disorder, passed from parents to their child through defects in one of at least 14 different genes can cause FA. The proteins normally produced from these genes help detect and repair damaged DNA in blood stem cells and other cells of the body. In FA, DNA repair is abnormal, leading to a buildup of damaged DNA in the bone marrow, causing it to fail.

    When both parents carry a defect in the same FA gene, each of their children has a 25 percent chance of getting this abnormal gene from both parents. If a child gets both defective genes, he or she is born with FA.

    Symptoms

    What are the symptoms of Fanconi anemia?

    While your child may experience a variety of symptoms, the most common symptoms of FA are:

    • extreme tiredness
    • frequent infections
    • easy bruising
    • nose or gum bleeding
    • low red, white or platelet blood cells or blood counts

    About 75 percent of children with FA also have one or more of the following physical characteristics:

    • light brown birthmarks (called café-au-lait spots) or areas without any pigmentation (called ash leaf spots)
    • short stature
    • thumb and arm abnormalities (missing, misshapen or extra thumbs, a thumb bone not attached to the hand bone or an underdeveloped or missing forearm bone)
    • low birth weight
    • small eyes
    • abnormalities of the kidneys, genitals, gastrointestinal tract, heart and central nervous system
    • abnormal middle ear bones  or ear canals leading to poor hearing

    Certain forms of cancer also tend to develop at a young age and may come back after treatment in people with FA. They include

    • leukemia
    • head and neck cancer (mouth, tongue and throat)
    • gynecologic cancers (particularly labial, ano-genital and cervical cancer)
    • gastrointestinal cancers (especially liver cancer)
    • brain tumors

    Some of the symptoms of FA may resemble other blood disorders or medical problems, some of which are very common and easy to treat. Also, the list above includes common symptoms of the disease but does not list all possible symptoms. It is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns.

    Will my child be OK?

    FA is a very serious genetic condition, and your child will require life-long care from trained specialists, including careful monitoring to prevent and treat complications of the disease. With a diagnosis of FA comes an increase in certain risks, including those of bone marrow failure, leukemia and certain types of tumors. Your child’s physician is available to answer questions about your child’s condition, prognosis and available treatment options.

  • Fanconi anemia (FA) in children is usually discovered between birth and age 15, but there have been cases of FA first recognized in adults. Sometimes, cancer is the first sign that an adult patient has FA.

    Your child’s physician may order a number of different tests to make a diagnosis of FA, including:

    • blood tests
    • The DEB or chromosome breakage test, the standard definitive test for FA at this time
    • bone marrow aspirate and biopsy to determine the extent of aplastic anemia and to look for early signs of leukemia
    • blood samples may be examined to identify the specific FA gene present

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

  • Children receive treatment for Fanconi anemia (FA) through the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center's Bone Marrow Failure Program.  

    Dana-Farber/Boston Children’s seamlessly integrates two internationally-recognized research and teaching institutions that have provided comprehensive care for pediatric cancer and blood disorder patients since 1947. Working together, we provide more specialists, more programs, and more clinical trials than almost any other pediatric center treating cancer and blood disorders in the world.

     If your child receives a hematopoietic stem cell transplant, she will stay in Dana-Farber/Boston Children’s specialized hematopoietic stem cell transplant unit.

     Your child’s physician will determine a specific course of treatment based on several factors, including:

    • your child's age, overall health and medical history
    • the severity of symptoms of your child
    • your child's tolerance for specific medications, procedures or therapies
    • how your child's doctors expects the disease to progress
    • the availability of a suitable blood stem cell donor

    Treatment may include:

    Androgen therapy, which includes:

    • hormones that can improve the blood counts in about 50 percent of those with FA
    • medicine taken orally in liquid or pill form every day

    With this treatment, side effects may include: fluid retention and high blood pressure, nausea, vomiting, acne, oily skin, enlarged penis/clitoris, hoarseness/voice deepening, hair growth or loss, behavioral changes, hot flashes, breast enlargement or tenderness, loss of menstruation and liver toxicity. Those side effects can be lessened or even eliminated by careful adjustment of dosage.

    The doctors in the Bone Marrow Failure Program are world experts in this type of therapy.

     Growth factor therapy, which:

    • can stimulate bone marrow to make more white blood cells
    • may improve red blood cell or platelet counts
    • is delivered through a subcutaneous injection (similar to insulin in diabetes)
    • carries highly individualized risks and benefits

    Hematopoietic Stem cell transplant (HSCT), which can:

    • can cure aplastic anemia (bone marrow failure), leukemia and myelodysplastic syndrome, but does not cure the risk of other cancers
    • can make patients are particularly susceptible to the side effects of this type of a procedure, so treatment options require careful consideration of risks and benefits

    Resources & support

    In addition to providing medical care, we also strive to meet all of your family’s emotional and quality-of-life needs. Our family support services will help address many of your needs and concerns. Read about our resources and support services.

  • At Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, our care is informed by our research. We have a long history of research and innovation in conditions associated with bone marrow failure, including Fanconi anemia in children.

    Research underway

    • David A. Williams, MD, chief of the Division of Hematology/Oncology, is studying the communication between hematopoietic stem cells and the bone marrow in which they sit, as well as developing a new gene therapy to treat FA.
    • Williams also is overseeing a stem cell transplant clinical trial for FA patients that avoids exposure to radiation during induction therapy, hopefully reducing the risk of secondary cancers in FA patients.
    • Colin Sieff, MBBCh, is evaluating whether an androgen, called danazol, is safe treatment for Fanconi anemia. This clinical trial is open to new patients. Researchers at DF/BCCC also are developing a new diagnostic blood test that complements the current DEB test.

    For more information about current research, visit our Bone Marrow Failure Program.

    Stem cells teach lessons about blood diseases and more

    Researchers George Daley, MD, PhD, and David Williams, MD, are using embryonic stem cells (ES cells) to model Fanconi anemia. Children with FA often don’t show low blood counts until about age 7. However, ES cell studies have revealed that the disease may originate before birth, during the beginnings of blood formation.

    In addition, these researchers are using new methods to create blood stem cells from skin fibroblasts obtained from FA patients. These “reprogrammed” cells can be genetically corrected. They hope this approach will lead to new treatments for the aplastic anemia that occurs with FA.

    This research suggests that children with FA are born with only a small number of blood stem cells. These can sustain the blood for some time, but eventually the inability to repair damaged chromosomes (a hallmark of FA) kills them off. Researchers hope that ES cells can be used to test possible drugs that might prevent marrow loss.

    Clinical Trials

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

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