Important It is possible that the main title of the report Anemia, Fanconiis not the name you expected.
Synonyms
Fanconi's Anemia, Type I (FA1)
Fanconi Pancytopenia
Fanconi's Anemia, Estren-Dameshek Variant
Aplastic Anemia with Congenital Anomalies
Congenital Pancytopenia
Constitutional Aplastic Anemia
Fanconi Panmyelopathy
Disorder Subdivisions
Fanconi's Anemia, Complementation Group A (FANCA); FAA
Fanconi's Anemia, Complementation Group B (FANCB); FACB
Fanconi's Anemia, Complementation Group C (FANCC); FAC
Fanconi's Anemia, Complementation Group D (FANCD); FACD
Fanconi'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.
Resources
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Fanconi Anemia Research Fund, Inc. 1801 Willamette St Suite 200 Eugene, OR 97401 USA Tel: 5416874658 Fax: 5416870548 Tel: 8008284891 Email: info@fanconi.org Internet: http://www.fanconi.org/
International Fanconi Anemia Registry c/o Arleen Auerbach, PhD Rockefeller University 1230 York Avenue, Box 77 New York, NY 10021 Tel: (212)327-8862 Fax: (212)327-8262 Email: auerbac@mail.rockefeller.edu Internet: http://www.rockefeller.edu/labheads/auerbach/auerbach.html
NIH/National Heart, Lung and Blood Institute 31 Center Drive MSC 2480 Building 31A Rm 4A16 Bethesda, MD 20892-2480 Tel: (301)592-8573 Fax: (240)629-3246 Email: nhlbiinfo@rover.nhlbi.nih.gov Internet: http://www.nhlbi.nih.gov/
Canadian Fanconi Anemia Research Fund PO Box 38157 Castlewood Postal Outlet Toronto Ontario, Intl M5N 3A9 Canada Tel: 416-489-6393 Fax: 416-489-6393 Email: admin@fanconicanada.org Internet: http://www.fanconicanada.org
NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)
Fanconi Anaemia Co UK 23 Hardy Close Barnet hertfordshire, Intl EN5 2FA United Kingdom Tel: 02084499378 Email: roberto@fanconi-anaemia.co.uk Internet: http://www.fanconi-anaemia.co.uk
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: 9203365333 Fax: 9203390995 Tel: 8773365333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/
Let Them Hear Foundation 1900 University Ave #101 East Palo Alto, CA 94303 Tel: (650)462-3143 Fax: (650)462-3143 Tel: (877)735-2929 Email: info@letthemhear.org Internet: http://www.letthemhear.org
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