Hemophilia A, congenital

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U.S. Department of Health & Human Services

Genetic and Rare Diseases Information Center (GARD)

Hemophilia, classic
HEM A
Classic hemophilia
Factor 8 deficiency, congenital
Factor VIII deficiency, congenital

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Hemophilia A, congenital
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Hemophilia A is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury. Hemophilia A is inherited in an X-linked recessive fashion and is casued by mutations in the F8 gene.^[1]

References

Hemophilia. Genetics Home Reference. May 2010 Available at: http://ghr.nlm.nih.gov/condition=hemophilia. Accessed June 16, 2011.

Questions & Answers

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For more information about Hemophilia A, congenital click on the boxes below:

More Detailed Information	Organizations	Medical Products	Services	Scientific Conferences	Clinical Trials & Research

General \| Management Guidelines
More Detailed Information (Found 12 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer General The American Society of Gene & Cell Therapy provides information on the treatment of hemophilia. Genetics Home Reference (GHR) contains information on Hemophilia A, congenital. Click on the link to go to GHR and review the information. MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information. The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information. The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic. The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hemophilia A, congenital. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Hemophilia A, congenital. Click on the link to view a sample search on this topic. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic. The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and carriers of hemophilia A and B. Click on the link to view the guidelines.

General | Management Guidelines

More Detailed Information (Found 12 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

General
- The American Society of Gene & Cell Therapy provides information on the treatment of hemophilia.
- Genetics Home Reference (GHR) contains information on Hemophilia A, congenital. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hemophilia A, congenital. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hemophilia A, congenital. Click on the link to view a sample search on this topic.
Management Guidelines
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and carriers of hemophilia A and B. Click on the link to view the guidelines.

Organizations Providing General Support \| Social Networking Websites
Organizations (Found 8 resources) Groups providing a wide range of services, supportive resources, and information. Disclaimer World Federation of Hemophilia 1425 Rene Levesque Blvd. W. Suite 1010 Montreal, Quebec H3G 1T7 Canada Telephone: 514-875-7944 Fax: 514-875-8916 E-mail: wfh@wfh.org Web site: http://www.wfh.org/ National Hemophilia Foundation 116 West 32nd Street, 11th Floor New York, NY 10001 Toll-free: 1-800-42-HANDI Telephone: 212-328-3700 Fax: 212-328-3799 E-mail: handi@hemophilia.org Web site: http://www.hemophilia.org/ Canadian Hemophilia Society 400-1255 University St Montreal, QC H3B 3B6 Toll-free: 1-800-668-2686 Telephone: 514-848-0503 Fax: 514 848-9661 E-mail: chs@hemophilia.ca Web site: http://www.hemophilia.ca Organizations Providing General Support Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.

Organizations Providing General Support | Social Networking Websites

Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer

- World Federation of Hemophilia
  1425 Rene Levesque Blvd. W.
  Suite 1010
  Montreal, Quebec H3G 1T7
  Canada
  Telephone: 514-875-7944
  Fax: 514-875-8916
  E-mail: wfh@wfh.org
  Web site: http://www.wfh.org/
- National Hemophilia Foundation
  116 West 32nd Street, 11th Floor
  New York, NY 10001
  Toll-free: 1-800-42-HANDI
  Telephone: 212-328-3700
  Fax: 212-328-3799
  E-mail: handi@hemophilia.org
  Web site: http://www.hemophilia.org/
- Canadian Hemophilia Society
  400-1255 University St
  Montreal, QC H3B 3B6
  Toll-free: 1-800-668-2686
  Telephone: 514-848-0503
  Fax: 514 848-9661
  E-mail: chs@hemophilia.ca
  Web site: http://www.hemophilia.ca
Organizations Providing General Support
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.

Medical Products (Found 4 resources)
Disclaimer

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Antihemophilic factor (recombinant)	ReFacto® (Wyeth Pharmaceuticals, Inc.)	For the control and prevention of hemorrhagic episodes and for surgical prophylaxis in patients with hemophilia A (congenital factor VIII deficiency or classic hemophilia).	Drug Information Portal MedlinePlus
Antihemophilic factor (recombinant)	Kogenate FS (Bayer Corporation)	Treatment and prophylaxis of bleeding in patients with hemophilia A (not von Willebrand's disease)	Drug Information Portal MedlinePlus
Coagulation Factor VIIa (Recombinant)	NovoSeven® RT (Novo Nordisk, Inc.)	Treatment of bleeding episodes in patients with Factor VII Deficiency	Drug Information Portal
Desmopressin acetate	Stimate® (CSL Behring)	Treatment of patients with hemophilia A or von Willebrand's disease (type I) whose factor VIII coagulant activity level is greater than 5%.	Drug Information Portal

Testing \| Parent Resources
Services (Found 4 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more. Testing GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Testing | Parent Resources

Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

- Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Testing
- GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.


Scientific Conferences (Found 2 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer Past Conferences RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012 Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases. VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

Past Conferences
- RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
  Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
  Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.


Clinical Trials & Research (Found 2 resources) Resources where you may find research studies and clinical trials. Disclaimer NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials. Disclaimer

- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.