Fanconi Anemia
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Group

Description
Fanconi anemia is an inherited condition characterized by reduced production of all types of blood cells in the body. It is called a “chromosome breakage” condition. This means that people with Fanconi anemia have an unusually high number of breaks along their chromosomes.

Patients with Fanconi's anemia rarely live beyond their teens or early twenties.

Symptoms
Fanconi anemia usually reveals itself when children are between the ages of 3-12 years but in rare cases symptoms do not appear until adulthood. Adults with Fanconi anemia may present with atypical cancers for their age and risk factors. Some of the symptoms that are present in all age groups are extreme fatigue, and frequent infections, nosebleeds and bruising.

There are cases, however, when the disease is evident at birth through a variety of birth defects which include:
  •  Thumb and arm anomalies: misshapen or missing thumbs or an incompletely developed or missing radius (one of the forearm bones).
  •  Skeletal anomalies of the hips, spine, or ribs.
  •  Kidney problems.
  •  Skin discoloration (cafי-au-lait spots); portions of the body may have a suntanned look.
  •  Small head or eyes.
  •  Mental retardation or learning disabilities.
  •  Low birth weight
  •  Gastro-intestinal difficulties.
  •  Small reproductive organs in males.
  •  Defects in tissues separating chambers of the heart

Physical Characteristics of Individuals with Fanconi Anemia
  •  Discoloration of the skin
  •  Short stature
  •  Skeletal problems
  •  Some have learning problems
  •  Increased incidence of cancer

Incidence and Carriers
Approximately one in every 87 Ashkenazi Jews is a carrier of Fanconi anemia.
Both parents have to pass the gene change for the child to have Fanconi anemia
If two carriers for Fanconi anemia have a child each child has:
  •  One in Four chance of having Fanconi anemia
  •  Two in Four chance of being a carrier
  •  One in Four chance of neither having having Fanconi anemia nor being a carrier.
  •  Unaffected siblings of individuals with Fanconi anemia have a 2 in 3 chance of being carriers.

Carriers of the mutation that is common among Ashkenazi Jewish population can be detected through blood tests. In Ashkenazi Jews the changed gene is located on chromosome number 9. By looking for the specific gene change that is seen in Ashkenazi Jews with Fanconi anemia, it is possible to achieve a detection rate of approx. 83% in that population.

Once pregnant diagnosis of Fanconi anemia is available using samples collected via Chorionic Vllus Sampling or Amniocentesis.

Frequent screening can ensure early detection and diagnosis of cancers that are often associated with Fanconi anemia.

Treatment
Treatment for Fanconi anemia is primarily preventative. Individuals with Fanconi anemia may pursue stem cell transplantation. Transplants should be performed in centers with experience with Fanconi anemia, as the needs of the FA patient are vastly different than those with other bone marrow failure problems.  In order to detect cancers early, individuals with Fanconi anemia should arrange for frequent screenings. In addition, avoidance of exposure to the sun and to other agents that may damage the chromosomes is crucial.

Testing
Diagnosis: by chromosome and genetic testing
Carrier Testing for specific gene mutation – detects 99% of Fanconi Anemia Group C

Resources and More
Fanconi Anemia Research Fund, Inc.
1801 Willamette St, Suite 200
Eugene, OR 97401
Toll Free 800-828-4891 (within U.S.)
Telephone: 541-687-4658
Fax:(541) 687-4658
Email: info@fanconi.org
Web: http://www.fanconi.org

Center for the Study and Treatment of Jewish Genetic Diseases
at UPMC Health Systems
Contact: Erin O’Rourke, M.S.
Toll Free 800-334-7980
Email: eorourke@helix.hgen.pitt.edu

National Foundation for Jewish Genetic Diseases Inc.
250 Park Avenue, Suite 1000
New York, NY 10017
Telephone 212-371-1030

Contacts outside the United States: 
http://www.fanconi.org/family/Network.htm

Support groups
Fanconi's Anemia International Registry 
c/o Arleen Auerbach, PhD 
Laboratory for Investigative Dermatology 
The Rockefeller University 
1230 York Avenue 
New York, NY 10021-6399 
Phone: (212) 327-8862