Afibrinogenemia

Common Name(s)

Afibrinogenemia

Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot.  Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Afibrinogenemia" returned 46 free, full-text research articles on human participants. First 3 results:

Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbai mutation.
 

Author(s): Alfiya Mukaddam, Rucha Patil, Anshul Jadli, S Chandrakala, Kanjaksha Ghosh, Shrimati Shetty

Journal: Am. J. Clin. Pathol.. 2015 May;143(5):755-7.

 

Thrombosis is rarely reported in cases of afibrinogenemia and is generally associated with thrombophilia or replacement therapy. Often, it is difficult to predict whether the patients will bleed or whether they are exposed to the risk of thrombosis.

Last Updated: 15 Apr 2015

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Targeted mutation of zebrafish fga models human congenital afibrinogenemia.
 

Author(s): Richard J Fish, Corinne Di Sanza, Marguerite Neerman-Arbez

Journal: Blood. 2014 Apr;123(14):2278-81.

 

Mutations in the human fibrinogen genes can lead to the absence of circulating fibrinogen and cause congenital afibrinogenemia. This rare bleeding disorder is associated with a variable phenotype, which may be influenced by environment and genotype. Here, we present a zebrafish model ...

Last Updated: 4 Apr 2014

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Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia.
 

Author(s): Yasuo Ueda, Michio Nojima, Shingo Yamamoto

Journal: Transpl. Int.. 2012 Sep;25(9):e98-e100.

 

Last Updated: 13 Aug 2012

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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 "Afibrinogenemia" returned 1 free, full-text review articles on human participants. First 3 results:

[Congenital afibrinogenemia].
 

Author(s): P Pastilha, L Coelho, T D Costa, G Deus, H Santos, A Rosa, F Barrocas, L Braga

Journal: Acta Med Port. 1998 Dec;11(12):1117-9.

 

The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.

Last Updated: 30 Apr 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 Jul 2016

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Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency
 

Status: Recruiting

Condition Summary: Congenital Afibrinogenemia; Congenital Hypofibrinogenemia

 

Last Updated: 2 Jun 2016

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Last Updated: 4 May 2016

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