Hemophilia

Common Name(s)

Hemophilia

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this condition are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemophilia" for support, advocacy or research.

Bleeding Disorders Alliance Illinois

The Bleeding Disorders Alliance Illinois exists to improve the quality of life for persons affected by hemophilia and other inherited bleeding disorders.

Last Updated: 25 Sep 2013

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Hemophilia Federation of America

The Hemophilia Federation of America is a national non-profit organization that assists and advocates for the bleeding disorders community.

Last Updated: 26 Nov 2012

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National Hemophilia Foundation

The National Hemophilia Foundation is dedicated to finding better treatments and cures for bleeding and clotting disorder and to preventing the complications of these disorders through education, advocacy and research.

Last Updated: 27 Mar 2013

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The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

Last Updated: 3 Apr 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemophilia" for support, advocacy or research.

Bleeding Disorders Alliance Illinois

The Bleeding Disorders Alliance Illinois exists to improve the quality of life for persons affected by hemophilia and other inherited bleeding disorders.

http://www.bdai.org

Last Updated: 25 Sep 2013

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Hemophilia Federation of America

The Hemophilia Federation of America is a national non-profit organization that assists and advocates for the bleeding disorders community.

http://www.hemophiliafed.org

Last Updated: 26 Nov 2012

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National Hemophilia Foundation

The National Hemophilia Foundation is dedicated to finding better treatments and cures for bleeding and clotting disorder and to preventing the complications of these disorders through education, advocacy and research.

http://www.hemophilia.org

Last Updated: 27 Mar 2013

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The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

http://www.haemophilia.org.uk/

Last Updated: 3 Apr 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemophilia" returned 677 free, full-text research articles on human participants. First 3 results:

Role of the vector genome and underlying factor IX mutation in immune responses to AAV gene therapy for hemophilia B.
 

Author(s): Geoffrey L Rogers, Ashley T Martino, Irene Zolotukhin, Hildegund C J Ertl, Roland W Herzog

Journal:

 

Self-complementary adeno-associated virus (scAAV) vectors have become a desirable vector for therapeutic gene transfer due to their ability to produce greater levels of transgene than single-stranded AAV (ssAAV). However, recent reports have suggested that scAAV vectors are more immunogenic ...

Last Updated: 29 Jan 2014

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Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile.
 

Author(s): Shu-Kai Qiao, Han-Yun Ren, Jin-Hai Ren, Xiao-Nan Guo

Journal: Mol Med Rep. 2014 Feb;9(2):466-70.

 

Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal ...

Last Updated: 23 Dec 2013

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Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B.
 

Author(s): Jerry S Powell, K John Pasi, Margaret V Ragni, Margareth C Ozelo, Leonard A Valentino, Johnny N Mahlangu, Neil C Josephson, David Perry, Marilyn J Manco-Johnson, Shashikant Apte, Ross I Baker, Godfrey C Chan, Nicolas Novitzky, Raymond S Wong, Snejana Krassova, Geoffrey Allen, Haiyan Jiang, Alison Innes, Shuanglian Li, Lynda M Cristiano, Jaya Goyal, Jurg M Sommer, Jennifer A Dumont, Karen Nugent, Gloria Vigliani, Aoife Brennan, Alvin Luk, Glenn F Pierce,

Journal: N. Engl. J. Med.. 2013 Dec;369(24):2313-23.

 

Prophylactic factor replacement in patients with hemophilia B improves outcomes but requires frequent injections. A recombinant factor IX Fc fusion protein (rFIXFc) with a prolonged half-life was developed to reduce the frequency of injections required.

Last Updated: 16 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemophilia" returned 48 free, full-text review articles on human participants. First 3 results:

[Gene therapy for hemophilia B].
 

Author(s): Zhang-biao Long, Guo-wei Zhang, Xiao-dong Xi

Journal: Zhonghua Xue Ye Xue Za Zhi. 2013 Sep;34(9):809-11.

 

Last Updated: 9 Oct 2013

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Animal models of hemophilia and related bleeding disorders.
 

Author(s): Jay N Lozier, Timothy C Nichols

Journal: Semin. Hematol.. 2013 Apr;50(2):175-84.

 

Animal models of hemophilia and related diseases are important for the development of novel treatments and to understand the pathophysiology of bleeding disorders in humans. Testing in animals with the equivalent human disorder provides informed estimates of doses and measures of ...

Last Updated: 23 Dec 2013

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Acquired hemophilia associated with autoimmune bullous diseases: a report of two cases and a review of the literature.
 

Author(s): Shinichi Makita, Takumi Aoki, Akira Watarai, Azusa Aida, Takuji Katayama, Mikio Danbara, Masaaki Higashihara, Koji Miyazaki

Journal: Intern. Med.. 2013 ;52(7):807-10.

 

Acquired hemophilia (AHA) is a relatively rare and life-threatening disease caused by autoantibodies against factor VIII. Autoimmune bullous diseases (ABD) are also caused by autoantibodies against specific skin proteins. We herein report two cases of AHA associated with ABD. These ...

Last Updated: 2 Apr 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Global Hemostatic Methods in Hemophilia and Von Willebrand's Disease
 

Status: Recruiting

Condition Summary: Hemophilia A; Hemophilia B; Von Willebrand's Disease

 

Last Updated: 11 Feb 2014

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Socialization of Adult Men With Congenital Hemophilia A or B
 

Status: Recruiting

Condition Summary: Hemophilia A; Hemophilia B

 

Last Updated: 13 Jan 2012

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A Non-interventional Retrospective Study of the Current Treatment Practice in European Haemophilia Care
 

Status: Recruiting

Condition Summary: Haemophilia A; Haemophilia B

 

Last Updated: 17 Mar 2014

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