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300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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My Child Has:
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Fanconi Anemia
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Fanconi Anemia (FA) is a rare disease characterized by multiple physical abnormalities, bone marrow failure, and cancer susceptibility. FA is usually discovered between birth and age 10-15 years, however, there have been cases identified in adulthood. The genes responsible for FA continue to be cloned and characterized, thus leading to considerable progress in the diagnosis and understanding of this disease. Researchers have shown that defects (mutations) in at least 8 different genes can cause FA. The proteins normally produced from these genes form a kind of cellular "machine" that aids in the repair of damaged DNA (a normal, daily occurrence). In FA, DNA repair is slowed. Therefore, blood stem cells (in the bone marrow) accumulate damaged DNA and do not survive.
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FA occurs equally in males and females. It has been identified in all ethnic groups.
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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.
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Individuals with FA may feel extremely tired or have frequent infections. They may bruise easily and experience nosebleeds. Blood tests may reveal low red, white, or platelet cell counts. Approximately 75% of affected persons have one or more of the following physical characteristics: cafe 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, short stature, 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 FA. Individuals with FA may only have a few of the clinical features described above or none at all.
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In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of FA. 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 FA at this time. However, researchers at Childrens Hospital and the Dana-Farber Cancer Institute 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.
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Specific treatment for FA and its complications will be determined by your childs physician based on:
Specific treatment for FA and its complications will be determined by your child's physician based on:
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- Your childs 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
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Treatment options may include, but are not limited to, the following:
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- Androgen therapy. Androgens are hormones that can improve the blood counts in approximately 50% of individuals with FA. 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.
- Bone Marrow Transplant. At present, this is the only cure for the blood defects in FA. This therapy has many risks associated with it and therefore is not indicated for many individuals with FA. The risks are compounded because FA makes individuals extremely sensitive to chemotherapy and radiation therapy, essential "pre" bone marrow transplant therapies. The decision to proceed with bone marrow transplant should be discussed with your child's Hematologist and a Bone Marrow Transplant Team.
- Additional treatment alternatives are currently being studied.
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The Bone Marrow Failure Program at Children's Hospital Boston
In addition to providing information and access to local and national research initiatives, this outpatient 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 Fanconi Anemia. This clinic is part of the outpatient Hematology service and functions in conjunction with Dana Farber Cancer Institute and the Bone Marrow Transplant service.
The Bone Marrow Failure Program at Children's Hospital Boston
In addition to providing information and access to local and national research initiatives, this outpatient 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 Fanconi Anemia. This clinic is part of the outpatient Hematology service and functions in conjunction with Dana Farber Cancer Institute and the Bone Marrow Transplant service.
The Comprehensive Fanconi Anemia Center at Dana Farber Cancer Institute Boston Massachusetts / Joint Program with Children's Hospital Boston
This center provides a broad range of activities and services that will ultimately lead to the better molecular understanding, diagnosis, and treatment of FA patients. Among the activities in the FA center are the following:
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- A basic research program in FA.
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- 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).
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- A cytogenetics core laboratory for diagnosis and subtype identification.
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- The development of a gene therapy protocol for treatment of FA.
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- The identification of a new diagnostic blood test which compliments the current DEB test.
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Fanconi Anemia Research Fund, Inc.
A non-profit organization 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
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The information on this website should not be taken as medical advice,
which can only be given to you by your personal health care professional. |
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Copyright © Children's Hospital Boston. All rights reserved. |
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