• Fanconi Anemia

    Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a higher than normal risk of cancer. Researchers have shown that defects (mutations) in one of at least 15 different genes can cause Fanconi anemia. The proteins normally produced by these genes form a kind of cellular “machine” that helps detect and repair damaged DNA in blood stem cells and other cells in the body (a normal, daily occurrence). In Fanconi anemia, that DNA repair is slowed. Therefore, blood stem cells (in the bone marrow) accumulate damaged DNA and do not survive.

    Fanconi anemia is usually discovered between birth and age 10-15 years; however, there have been cases identified in adulthood. Fanconi anemia occurs equally in males and females. It has been identified in all ethnic groups. Researchers continue to clone and characterize the genes responsible for Fanconi anemia, which is bringing considerable progress in the diagnosis and understanding of this disease.

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

    Children, teenagers and young adults with Fanconi 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 the blood defects of Fanconi anemia.

    What causes Fanconi anemia?

    Fanconi anemia (FA) is a genetic disease. It is a recessive disorder: If both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When both of these affected genes are inherited, the child has FA. “Carriers” of the genetic defect (for example, the parents) do not have the disease.

    What are the symptoms of Fanconi anemia?

    The most common symptoms of Fanconi anemia are:

    • Extreme tiredness
    • Frequent infections
    • Easy bruising
    • Nose or gum bleeding

    These symptoms are due to low numbers or red blood cells, white blood cells or platelets.

    About 75% of children with Fanconi anemia have one or more of the following physical characteristics:

    • Café au lait spots (light brown birth marks)
    • Short stature
    • Thumb and arm abnormalities (missing, misshapen, or extra thumbs or an incompletely developed/missing forearm bone)
    • Low birth weight
    • Small head or eyes
    • Abnormalities of the kidneys, genitals, gastrointestinal tract, heart, and central nervous system.

    Sometimes leukemia or myelodysplasia is the first sign of Fanconi anemia. Individuals with Fanconi anemia may only have a few of the clinical features described above or none at all.

    How is Fanconi anemia diagnosed?

    In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of Fanconi anemia. Initially, blood work is performed to evaluate the degree of anemia and examine other body systems. A chromosome breakage test called the DEB test is the standard, definitive test for Fanconi anemia at this time. However, researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center are developing new, simpler and more rapid tests that may soon replace the DEB test. In addition, blood and bone marrow samples may be examined in order to identify the specific gene mutation present in the individual.

    What is the treatment for Fanconi anemia?

    Specific treatment for Fanconi anemia and its complications 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 the disease
    • Your opinion or preference

    Treatment options for Fanconi anemia may include, but are not limited to, the following:

    • Androgen therapy: Androgens are hormones that can improve the blood counts in approximately 50% of individuals with Fanconi anemia. They are taken daily, by mouth in liquid or pill form. Side effects of androgens include, but are not limited to: 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.
    • Growth Factors: Growth Factors such as G-CSF or GM-CSF stimulate the production of white blood cells. In some instances they may also improve red blood cell or platelet counts as well. They are given by injection.
    • Stem cell transplant: At present, this is only cure for the blood defects in Fanconi anemia. Stem cell transplantation involves replacing of diseased blood-forming stem cells with another person’s healthy stem cells. 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.

      In addition, stem cell transplants have many associated risks and therefore are not appropriate for many children with Fanconi anemia. The risks are compounded because Fanconi anemia makes individuals extremely sensitive to chemotherapy and radiation therapy, which are essential “pre” stem cell transplant therapies. The decision to proceed with stem cell transplant should be discussed with your child’s hematologist and a stem cell transplant team.

    Additional treatment alternatives are currently being studied.

    What is the latest research on Fanconi 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 Bone Marrow Failure Program 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 Fanconi anemia. This program is part of the Blood Disorders Center at Dana-Farber/Boston Children's and works in partnership with the Stem Cell Transplant Center at Dana-Farber/Boston Children's.

    Our research involves a broad range of activities and services that ultimately will lead to the better molecular understanding, diagnosis, and treatment of children with Fanconi anemia. Activities include:

    • Basic research program in Fanconi anemia
    • A Fanconi anemia patient cell repository containing blood samples, bone marrow skin biopsy samples, and tumor specimens from affected patients and families (participation is voluntary). Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of the diseases and clinical outcomes of patients—first steps to identifying possible new treatments.
    • A cytogenetics core laboratory for diagnosis and subtype identification
    • The development of a gene therapy protocol for treatment of Fanconi anemia using induced pluripotent stem cells (iPSCs) from Fanconi anemia patients
    • The identification of a new diagnostic blood test which compliments the current DEB test

    Fanconi Anemia Research Fund, Inc.
    This non-profit organization was founded in 1989 by the parents of children with Fanconi anemia. The fund’s mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide. For more information, please visit www.fanconi.org.

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

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

    Certain forms of cancer tend to develop in Fanconi anemia patients at a young age and may come back after treatment. These 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

    The average lifespan for people with FA is 20 to 30 years. Patients with a large number of birth defects are at higher risk of early-onset severe aplastic anemia, while those with fewer abnormalities are more likely to develop leukemia or solid tumors as young adults. The most common cause of death is bone marrow failure, leukemia or solid tumors.

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