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Home Page > Diseases by Region: Ashkenazi > Fanconi Anemia (C)

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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Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
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