Fanconi Anemia
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.
· Physical
Characteristics in Fanconi Anemia Patients
· Life
Expectancy
· Symptoms
and Detection
· Treatment
· Incidence
and Carriers
· Resources
and More
· Resources
Outside the United States
Physical Characteristics
of Individuals with Fanconi Anemia
· Discoloration of the skin
· Short stature
· Skeletal problems
· Some have learning problems
· Increased incidence of cancer
Life Expectancy
Patients with Fanconi's anemia rarely live beyond their teens or early twenties.
Symptoms
and Detection of Fanconi Anemia
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
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.
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.
More Information and Resources
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
For
Genetic Counseling and Screening Resources – Click Here