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Fanconi Anemia (C)
by Yael Rosenberg, RN
Description
Fanconi anemia is an autosomal recessive 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. This is caused by changes in the genes that are
involved with copying and repair DNA of cells.
In Ashkenazi Jews the most prevalent type of Fanconi Anemia is type
C which is the result of mutation of the FANCC gene which is located
on chromosome number 9.
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 (cafe-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
Patients with Fanconi Anemia rarely live beyond their teens or early
twenties
Incidence and Carriers
Carrier Frequency: Approximately 1 in 89 Ashkenazi Jews
for specific FANCC gene mutation.
Approximately 1 in 300 in general population
Disease Frequency: Approximately 1 in 32,000 in the Jewish
population.
1 in 100,000 in the general population.
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.
There are a number of remedies available to treat the malfunctioning
bone marrow that results in blood deficiencies:
• Growth factors (such as erytropoietin, G-CSF, and GM-CSF) and
androgens (male hormones): These are given as a temporary solution
to some affected persons. They promote the production of red and
white blood cells and platelets some people. However aside from the
fact that these treatments lose their efficacy over time they do
have a potential for toxicity.
• Bone Marrow Transplant: This alleviates the blood cell
insufficiencies and may lower the risk of leukemia. However the risk
of solid tumors is not diminished with this treatment.
Testing
Tests commonly utilized to help diagnose Fanconi Anemia include the
following:
• Bone marrow biopsy
• Blood test: complete blood count
• Developmental tests
• MRI or CT scan
• Hearing test
• Ultrasound of the kidneys
• Chromosomal testing
• Genetic Testing
Pregnant women may have amniocentesis or chorionic villous sampling
to diagnose the condition in their unborn child.
Carrier Testing for specific gene mutation – detects 99% of Fanconi
Anemia Group C
Laboratories and Screening
The following laboratories offer genetic testing for Canavan
Disease:
• United States
• Israel
UNITED STATES
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email:
clientservices@aruplab.com
Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
Children's Hospital Boston
DNA Diagnostic Lab
300 Longwood Ave. Farley 7
Boston, MA 02115
Phone: (617) 355-5317
Fax: (617) 730-0338
Children’s Memorial Hospital
2300 Children’s Plaza
Chicago IL 60614
Phone: (773) 880-4462
Cincinnati Children's Hospital Medical Center, Division of Human
Genetics
3333 Burnet Avenue,
Cincinnati, Ohio 45229-3039
Phone: (513) 636-4474
Fax: (513) 636-4373
Email:
moleculargenetics@cchmc.org
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)
Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Telephone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Tel: (800) 848-4436
Hartford Hospital
Clinical Lab Partners/Molecular Genetics and Cytogenetics
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733
LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email: rochelle.pakier@mssm.edu
New Jersey Medical School
Institute of Genomic Medicine
University Hospital
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795
NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590
OHSU Oregon Health & Science University
Laboratory Services L471
3181 S.W. Sam Jackson Park Road
Portland, OR 97239
Phone: (503) 494-5400
Fax: (503) 494-6922
Email: wilcoxk@ohsu.edu
PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web:
http://www.preventiongenetics.com
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
Reproductive Genetics Institute (RGI)
2825 North Halsted St.
Chicago, IL 60657
Phone: (773) 472-4900
Fax: (773) 871-5221
Email: rgi@flash.net
**Lab provides PGD (Preimplentation Genetic Diagnosis) and prenatal
testing.
UCLA Diagnostic Molecular Pathology Laboratory
11633 San Vicente Blvd.
Los Angeles, CA 90049
Phone: (310) 794-2781
Fax: (310) 794-2765
UC – San Diego Medical Genetics
University of California San Diego
Division of Medical Genetics (MC 0639)
9500 Gilman Dr.
La Jolla, CA 92093-0639
Phone: (858) 534-3093
Fax: (858) 534-0269
Email: tcahill@ucsd.edu
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic
Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone: (617) 636-7721
Fax: (617) 636 -0745
ISRAEL
Assaf Harofeh Medical Center
Molecular Genetics Laboratory
Zerifin, Israel
Phone: (+972) 8-977-9617
Web:
http://www.assafh.org/ENG/index.asp
The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb, Haifa , 33394
Phone: (+972)-4-835-9851
Phone: (+972)-4-835-9495
Web: http://www.b-zion.org.il
Resources and More
Fanconi Anemia Research Fund, Inc.
1801 Willamette St, Suite 200
Eugene, OR 97401
Toll Free: (800) 828-4891 (within U.S.)
Phone: (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
Phone: (212) 371-1030
Contacts outside the United States:
Web:
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
Hope for Henry Foundation
PO Box 39133
Washington, DC 20016
Web: info@hopeforhenry.org
Hope for Henry Foundation (HFHF) improves the lives of children with
life-threatening illnesses by providing gifts for individual
children battling life-threatening illnesses; gifts for the
patients’ siblings; celebratory events that bring childhood
pleasures to hospitalized children and their families;
hospital-based programs that improve the activities and amenities
available to children awaiting or undergoing treatment
UK & Ireland Fanconi Anaemia Family/Clinical Network
Fanconi Hope
Bob Dalgleish
PO Box 905
Southsea, Hants, UK PO1 9JG
Phone: (+44) 0845 271 2811
The network has be set up to promote research to benefit FA-affected
patients and provide information for FA families
Fanconi Anemia Australia
Postal address:
PO Box 495
Salisbury SA 5108
Australia
Email: info@fanconi.org.au
FA Adults Yahoo! Group – International
Moderated by the Fanconi Anemia Research Fund, Inc.
Fanconi Yahoo! Group
Moderated by the Fanconi Anemia Research Fund, Inc.
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