Anemia, Fanconi / Disease

Diseases & Conditions

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Anemia, Fanconi

Synonyms of Anemia, Fanconi

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

Organizations related to Anemia, Fanconi

Canadian Fanconi Anemia Research Fund
PO Box 38157
Ontario Intl M5N 3A9
Phone #: 416--48-9-6393
800 #: --
e-mail: [email protected]
Home page: http://www.fanconicanada.org
Fanconi Anaemia Co UK
23 Hardy Close
hertfordshire Intl EN5 2FA
Phone #: 020-844-99378
800 #: 999--99-9-9999
e-mail: [email protected]
Home page: http://www.fanconi-anaemia.co.uk
Fanconi Anemia Research Fund, Inc.
1801 Willamette St
Eugene OR 97401
Phone #: 541-687-4658
800 #: 800-828-4891
e-mail: [email protected]
Home page: http://www.fanconi.org/
Fanconi Hope Charitable Trust
21 Meadow Bank
Manchester None M21 8EF
Phone #: 004-4 (-0) 7870780422
800 #: N/A
e-mail: [email protected]
Home page: http://www.fanconihope.org
International Fanconi Anemia Registry
c/o Arleen Auerbach, PhD
New York NY 10021
Phone #: 212-327-8862
800 #: --
e-mail: [email protected]
Home page: http://www.rockefeller.edu/labheads/auerbach/auerbach.html
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: [email protected]
Home page: http://www.letthemhear.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
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: [email protected]
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)
10 Center Dr, Building 10-CRC
Bethesda MD 20892-1202
Phone #: 301-402-0764
800 #: --
e-mail: [email protected]
Home page: http://dir.nhlbi.nih.gov/labs/hb/index.asp?
NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Bethesda MD 20892-2480
Phone #: 301-592-8573
800 #: --
e-mail: [email protected]
Home page: http://www.nhlbi.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html