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Copyright 1986, 2989, 1991, 1992, 1993, 1994, 1996, 1997, 1998, 1999, 2006, 2007, 2009
Synonyms of Anemia, Fanconi
- Aplastic Anemia with Congenital Anomalies
- Congenital Pancytopenia
- Constitutional Aplastic Anemia
- Fanconi Pancytopenia
- Fanconi Panmyelopathy
- FanconiÂ’s Anemia, Estren-Dameshek Variant
- Fanconi's Anemia, Type I (FA1)
Disorder Subdivisions
- Fanconi's Anemia, Complementation Group A (FANCA); FAA
- Fanconi's Anemia, Complementation Group B (FANCB); FACB
- FanconiÂ’s Anemia, Complementation Group C (FANCC); FAC
- FanconiÂ’s Anemia, Complementation Group D (FANCD); FACD
- FanconiÂ’s Anemia, Complementation Group E (FANCE); FACE
- Fanconi's Anemia, Complementation Group F (FANF); FACF
- Fanconi's Anemia, Complementation Group G (FANG); FACG
- Fanconi's Anemia, Complementation Group H (FANH); FACH
General Discussion
Fanconi anemia, also known as aplastic anemia with congenital anomalies, is a rare genetic disorder that may be apparent at birth or during childhood. In some cases, Fanconi anemia might not be diagnosed until adulthood. It is an inherited predisposition to gene mutations, probably because of a poor ability to repair chromosome damage (chromosome instability). It predisposes to damage to stem cells and eventually to leukemic transformation. The disorder is characterized by a deficiency of all bone marrow elements including red blood cells, white blood cells, and platelets (pancytopenia). Fanconi anemia may also be associated with heart (cardiac), kidney (renal), and/or skeletal abnormalities. It is commonly accompanied by patchy, brown discolorations (pigmentation changes) of the skin. There are several different subtypes (complementation groups) of Fanconi anemia, each of which is thought to result from an abnormal change (mutation) to a different gene. Each subtype appears to share the same characteristic symptoms and findings (phenotype). Most cases of Fanconi anemia have autosomal recessive inheritance. Fanconi anemia is not related in any way to Fanconi syndrome, a rare kidney disorder.
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Organizations related to Anemia, Fanconi
- Canadian Fanconi Anemia Research Fund
PO Box 38157
Toronto
Ontario Intl M5N 3A9
Phone #: 416--48-9-6393
800 #: --
e-mail: admin@fanconicanada.org
Home page: http://www.fanconicanada.org
- Fanconi Anemia Research Fund, Inc.
1801 Willamette St
Suite 200
Eugene OR 97401
Phone #: 541-687-4658
800 #: 800-828-4891
e-mail: info@fanconi.org
Home page: http://www.fanconi.org/
- Fanconi Hope
PO Box 905
Southsea
Hampshire None PO1 9JG
Phone #: +44- (0-) 845 271 2811
800 #: N/A
e-mail: info@fanconihope.org
Home page: http://www.fanconihope.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- International Fanconi Anemia Registry
c/o Arleen Auerbach, PhD
Rockefeller University
1230 York Avenue, Box 77
New York NY 10021
Phone #: 212-327-8000
800 #: --
e-mail: pubinfo@rockefeller.edu
Home page: http://www.rockefeller.edu/labheads/auerbach/clinresearch.php
- Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)
10 Center Dr, Building 10-CRC
3-5140, MSC-1202
Bethesda MD 20892-1202
Phone #: 301-402-0764
800 #: --
e-mail: zamaniw@nhlbi.nih.gov
Home page: http://dir.nhlbi.nih.gov/labs/hb/index.asp?
- NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda MD 20892-2480
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: http://www.nhlbi.nih.gov/
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