Hemophilia

Important
It is possible that the main title of the report Hemophilia 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

AHF Deficiency
AHG Deficiency
Antihemophilic Factor Deficiency
Classical Hemophilia
Antihemophilic Globulin Deficiency
Christmas Disease

Disorder Subdivisions

Hemophilia A (Factor VIII Deficiency)
Hemophilia C (Factor XI Deficiency)
Hemophilia B (Factor IX Deficiency)

General Discussion

Hemophilia is a rare inherited blood clotting (coagulation) disorder caused by inactive or deficient blood proteins (usually factor VIII). Factor VIII is one of several proteins that enable the blood to clot. Hemophilia may be classified as mild, moderate, or severe. The level of severity is determined by the percentage of active clotting factor in the blood (normal percentage ranges from 50 to 150 percent). People who have severe hemophilia have less than one percent of active clotting factor in their blood.

There are three major types of hemophilia: hemophilia A (also known as classical hemophilia, factor VIII deficiency or antihemophilic globulin [AHG] deficiency); hemophilia B (Christmas disease or factor IX deficiency); and hemophilia C (factor XI deficiency). Hemophilia A and B are inherited as X-linked recessive genetic traits, while Hemophilia C is inherited as an autosomal recessive genetic trait. Therefore, while hemophilia A and B are fully expressed in males only, hemophilia C affects males and females in equal numbers.

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

National Hemophilia Foundation
116 West 32nd Street
11th Floor
New York, NY 10001
USA
Tel: (212)328-3737
Fax: (212)328-3795
Tel: (800)424-2634
Email: handi@hemophilia.org
Internet: http://www.hemophilia.org

Canadian Hemophilia Society
625 President Kennedy
Suite 505
Montreal
Quebec, H3A 1K2
Canada
Tel: 5148480503
Fax: 5148489661
Tel: 8006682686
Email: chs@hemophilia.ca
Internet: http://www.hemophilia.ca

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

World Federation of Hemophilia
1425 Rene Levesque Boulevard West
Suite 1010
Montreal
Quebec, Intl H3G 1T7
Canada
Tel: 514-875-7944
Fax: 514-875-8916
Email: wfh@wfh.org
Internet: http://www.wfh.org

Cochrane Cystic Fibrosis and Genetic Disorders Group
Institute of Child Health, University of Liverpool
Alder Hey Children's NHS Foundation Trust
Liverpool, L12 2 AP
United Kingdom
Tel: +44 (0) 151 252 5696
Fax: +44 (0) 151 252 5456
Email: nikkij@liverpool.ac.uk
Internet: http://www.cfgd.cochrane.org/en/index.html

Hemophilia Federation of America
210 7th St. SE
Suite 200B
Washington, DC 20003
USA
Tel: (202)675-6984
Fax: (202)675-6983
Tel: (800)230-9797
Email: info@hemophiliafed.org
Internet: http://www.hemophiliafed.org

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/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

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

Irsh Haemophilia Society
First Floor
Cathedral Court
New Street
Dublin, 7
Ireland
Tel: +353 (0)1 657 99 00
Fax: +353 (0)1 657 99 01
Email: info@haemophilia.ie
Internet: http://www.haemophilia.ie/

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/10/2008
Copyright 1985, 1986, 1990, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2000, 2001, 2004, 2007 National Organization for Rare Disorders, Inc.

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