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: admin@fanconicanada.org
    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: roberto@fanconi-anaemia.co.uk
    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: info@fanconi.org
    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: info@fanconihope.org
    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: auerbac@mail.rockefeller.edu
    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: info@letthemhear.org
    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: 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 #: 914-428-7100
    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
    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
    Bethesda MD 20892-2480
    Phone #: 301-592-8573
    800 #: --
    e-mail: nhlbiinfo@rover.nhlbi.nih.gov
    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