Thrombophilia

Common Name(s)

Thrombophilia

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by {11:Seligsohn and Lubetsky, 2001} and {12:Varga and Kujovich, 2012}). Genetic Heterogeneity of Thrombophilia THPH2 ({188055}) is caused by mutation in the F5 gene ({612309}) on chromosome 1q23; THPH3 ({176860}) and THPH4 ({612304}) are both caused by mutation in the PROC gene ({612283}) on 2q; THPH5 ({612336}) and THPH6 ({614514}) are caused by mutation in the PROS1 gene ({176880}) on 3q11; THPH7 ({613118}) is caused by mutation in the AT3 gene ({107300}) on 1q25; THPH8 ({300807}) is caused by mutation in the F9 gene ({300746}) on Xq27; THPH9 ({612348}) is associated with decreased release of tissue plasminogen activator (PLAT; {173370}); THPH10 ({612356}) is caused by mutation in the HCF2 gene ({142360}) on 22q11; THPH11 ({613116}) is caused by mutation in the HRG gene ({142640}) on 3q27; and THPH12 ({614486}) is associated with variation in the THBD gene ({188040}) on 20p11. Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1; {173360}); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 ({612358}) and HABP2 ({603924}) genes has also been reported. Protection against venous thrombosis is associated with variation in the F13A1 gene ({134570}) on 6p25.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

APS Foundation of America, Inc.

The APS Foundation of America, Inc. is dedicated to fostering and facilitating joint efforts in the areas of education, public awareness, research and patient services in an effective and ethical manner.

Last Updated: 12 Aug 2013

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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 "Thrombophilia" for support, advocacy or research.

APS Foundation of America, Inc.

The APS Foundation of America, Inc. is dedicated to fostering and facilitating joint efforts in the areas of education, public awareness, research and patient services in an effective and ethical manner.

http://www.apsfa.org

Last Updated: 12 Aug 2013

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General Support Organizations

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General Resources

APS Foundation of America, Inc Fan Page

The APS Foundation of America, Inc. is the leading United States nonprofit health agency dedicated to bringing national awareness to Antiphospholipid Antibody Syndrome (APS).

Updated 13 Nov 2012

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Blogs

APS Friends & Support Forum

Are you looking for Support for Antiphospholipid Antibody Syndrome, APS, APLS, APLA, Hughes Syndrome, or Sticky Blood? Well you've come to the right place! This is an private forum for people who have Antiphospholipid Antibody Syndrome, friends, fam

Updated 13 Nov 2012

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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 "Thrombophilia" returned 190 free, full-text research articles on human participants. First 3 results:

Thrombosis and risk factors in female patients with a rare acquired thrombophilia: chronic myeloproliferative disorder - polycythaemia vera and essential thrombocythaemia.
 

Author(s): É Pósfai, I Marton, Z Kiss-László, B Kotosz, M Széll, Z Borbényi

Journal: Eur Rev Med Pharmacol Sci. 2014 ;18(24):3810-8.

 

In polycythaemia vera (PV) and essential thrombocythaemia (ET), the life expectancy of the patients is greatly affected by thrombotic events. An investigation was performed of the potential association of PV/ET, and thrombotic complications with cardiovascular (CV) risk factors, a ...

Last Updated: 5 Jan 2015

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Thrombophilia testing, recurrent thrombosis, and women's health.
 

Author(s): Gregory Piazza

Journal: Circulation. 2014 Jul;130(3):283-7.

 

Last Updated: 15 Jul 2014

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Association between thrombophilia gene polymorphisms and preeclampsia: a meta-analysis.
 

Author(s): Xi Wang, Tingting Bai, Shengnan Liu, Hong Pan, Binbin Wang

Journal:

 

To estimate the relationship between the risk of preeclampsia and two thrombophilia gene single-nucleotide polymorphisms (SNPs), the factor V G1691A SNP and the prothrombin G20210A SNP.

Last Updated: 27 Jun 2014

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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 "Thrombophilia" returned 53 free, full-text review articles on human participants. First 3 results:

Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.
 

Author(s): Vinicius M Torres, Vera A Saddi

Journal: J Pediatr (Rio J). ;91(1):22-9.

 

This review aimed to organize and consolidate the latest knowledge about mutations and genetic polymorphisms related to hereditary thrombophilia and their potential association with pediatric stroke and cerebral palsy (CP).

Last Updated: 24 Jan 2015

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Cardiology patient page. Thrombophilia and hypercoagulability.
 

Author(s): Gregory Piazza

Journal: Circulation. 2014 Jul;130(2):e9-10.

 

Last Updated: 8 Jul 2014

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[Frequently associated genotypes to thrombophilia].
 

Author(s): Helena Hernández-Cuervo, Solangy Usme, Juan J Yunis

Journal: Biomedica. ;34(1):132-42.

 

Venous thromboembolism is an important pathological entity that causes high morbidity due either to the disease or its complications. The incidence in the world ranges between 1:100 in adults and 1:100,000 in children. Risk factors for the disease include genetic as well as environmental ...

Last Updated: 27 Jun 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Heparin for Pregnant Women With Thrombophilia
 

Status: Not yet recruiting

Condition Summary: Pregnancy and Thrombophilia

 

Last Updated: 24 Nov 2009

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EFFects of Thrombophilia on the Outcomes of Assisted Reproduction Technologies
 

Status: Recruiting

Condition Summary: Birth Rate; Embryo Implantation; Reproductive Techniques; Thrombophilia

 

Last Updated: 30 Mar 2015

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Arterial Microcirculation, Macrocirculation and Thrombophilias
 

Status: Recruiting

Condition Summary: Thrombophilia

 

Last Updated: 9 Jul 2010

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