CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0345/03459.txt

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$Unique_ID{BRK03459}
$Pretitle{}
$Title{Anemia, Fanconi's}
$Subject{Anemia, Fanconi's Aplastic Anemia with Congenital Anomalies
Congenital Pancytopenia Fanconi Panmyelopathy Constitutional Aplastic Anemia}
$Volume{}
$Log{}

Copyright (C) 1986, 1989, 1991, 1992 National Organization for Rare
Disorders, Inc.

84:
Anemia, Fanconi's

** IMPORTANT **
It is possible that the main title of the article (Fanconi's Anemia) is
not the name you expected.  Please consult the SYNONYM listing to find
alternate names and disorder subdivisions covered by this article.

Synonyms

     Aplastic Anemia with Congenital Anomalies
     Congenital Pancytopenia
     Fanconi Panmyelopathy
     Constitutional Aplastic Anemia

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Fanconi's Anemia is a rare form of familial aplastic anemia (a disease of
the bone marrow) found chiefly in children with abnormal chromosomes.  It is
characterized by bone marrow abnormalities, microcephaly, hypogenitalism and
brown pigmentation.  Complications including infections such as pneumonia and
meningitis, hemorrhages, and leukemia.  Other malignancies also may occur.

Symptoms

This disorder may first be recognized by the tendency of the patient to
bruise more easily than would normally be expected.  Unexplained epistaxis
(nosebleeds or hemorrhaging from the nose) may also be present.  Patients
with this disorder do not produce normal amounts of red blood cells, white
blood cells, and platelets.

Fanconi's Anemia is more common in males and is usually detected within
the first eight years of life.  Growth may be slowed or stunted.  Further
characteristics may include abnormal smallness of the skull (microcephaly)
and a decreased activity of the gonads resulting in retardation of growth and
sexual development known as hypogenitalism.  Eye problems associated with
this disorder include squinting (strabismus) and an abnormal smallness of the
eye known as microphthalmia.  There may also be skeletal abnormalities
chiefly in the upper extremities such as the absence of thumbs.  Exaggerated
reflexes (hyperreflexia), an abnormally small spleen, and renal anomalies may
also be present.

Causes

Fanconi's Anemia is a recessive hereditary disorder.  (Human traits including
the classic genetic diseases, are the product of the interaction of two genes
for that condition, one received from the father and one from the mother.  In
recessive disorders, the condition does not appear unless a person inherits
the same defective gene from each parent.  If one receives one normal gene
and one gene for the disease, the person will be a carrier for the disease,
but usually will show no symptoms.  The risk of transmitting the disease to
the children of a couple, both of whom are carriers for a recessive disorder,
is twenty-five percent.  Fifty percent of their children will be carriers,
but healthy as described above.  Twenty-five percent of their children will
receive both normal genes, one from each parent and will be genetically
normal.)   There may be genetic and environmental interactions resulting in
this syndrome.  Hypersensitivity of the cells to environmental carcinogens is
suspected to be one important factor.

Reciprocal translocation of the chromosome results when there is the
mutual exchange of fragments between two broken chromosomes and one part of
one chromosome unites with part of the other.  This may then be transmitted
to the offspring.

Affected Population

Fanconi's Anemia affects approximately one in 120,000 people.  It is usually
diagnosed by the time a child is two to six years of age, and has developed
aplastic anemia.  Victims of this disorder may also have a predisposition to
cancer (particularly leukemia).

Therapies:  Standard

Standard treatment for Fanconi's Anemia is symptomatic and supportive and
includes methyltestosterone, methyltestosterone plus prednisone, and blood
transfusions.  The disorder has been treated with cyclophosphamide alone or
in combination with procarbazine and antithymocyte globulin followed by
allogeneic bone marrow transplantation.  Preconditioning with thoraco-
abdominal irradiation has also been used.  New experimental approaches to
reduce the graft versus host complication (which is the main limiting factor
in bone marrow transplantation) includes the removal of donor T-lymphocytes
with cyclosporin A.  The long-term outcome of these treatments is still
unknown.

Treatment with Androgen (a male hormone) may be helpful in some cases of
Fanconi's Anemia.  However, this treatment loses it's effectiveness after
several years.

The ultimate goal of recent research on Fanconi's Anemia is to isolate
the single gene responsible for the disease and reverse the syndrome by gene
therapy.  This research is in preliminary stages.

Therapies:  Investigational

Under a grant from the National Organization for Rare Disorders (NORD), Dr.
Blanche Alter of the Mt. Sinai School of Medicine in New York is studying
several possible treatments for Fanconi's Anemia.  Patients who wish to
donate tissue for this study can ask their doctor to contact:

Blance Alter, M.D.
Mt. Sinai School of Medicine
5th Ave. & 100th St.
New York, NY  10029

Clinical trials are underway to study the genetic, developmental,
endocrine, hematologic, neurologic, gastrointestinal, metabolic, and
orthopedic aspects of the disorder.  Interested persons may wish to contact:

     Dr. Arleen Auerbach
     The Rockefeller University
     1230 York Ave.
     New York, NY  10021
     [phone]

to see if further patients are needed for this research.

The National Institutes of Health is conducting a study on Fanconi's
Anemia.  Interested persons may contact the institute listed below for
further information:

     NIH/The National Heart, Lung and Blood Institute (NHLBI)
     Clinical Hematology Branch
     Ms. Sandra Moyer
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

This disease entry is based upon medical information available through
January 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Fanconi's Anemia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Fanconi Anemia Research Fund, Inc.
     66 Club Rd., Suite 390
     Eugene, OR  97401
     [phone]

     International Fanconi Registry
     1230 York Ave.
     New York, NY  10021

     Aplastic Anemia Foundation of America
     P.O. Box 2268
     Baltimore, MD  21203
     [phone]
     1-800-747-2820

     NIH/National Heart, Lung and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

Dermatology News, July-August, 1986.  "Fanconi Anemia Study May Give Cancer
Insight."