Anemia, Fanconi

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Anemia, Fanconi is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

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)997-4488
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: (541)687-4658
Fax: (541)687-0548
Tel: (800)828-4891
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)327-8000
Fax: (212)327-7974
Email: pubinfo@rockefeller.edu
Internet: http://www.rockefeller.edu/labheads/auerbach/clinresearch.php

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
Toronto
Ontario, Intl M5N 2L2
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)
10 Center Dr, Building 10-CRC
3-5140, MSC-1202
Bethesda, MD 20892-1202
Tel: (301)402-0764
Fax: (301)402-3088
Email: zamaniw@nhlbi.nih.gov
Internet: http://dir.nhlbi.nih.gov/labs/hb/index.asp?

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

Fanconi Hope
PO Box 905
Southsea
Hampshire, PO1 9JG
UK
Tel: +44(0) 845 272 2811
Fax: +44(0) 1794 833433
Email: info@fanconihope.org
Internet: http://www.fanconihope.org

For a Complete Report

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

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