Factor XIIIA1 (F13A1) p.Val34Leu polymorphism testing

Record ID 32012000581
English
Authors' recommendations: Venous thromboembolism (VTE) is a serious medical condition in which abnormal blood clots form n the venous circulation. The most common forms of VTE are deep vein thrombosis (DVT), in hich clots form in the legs; and pulmonary embolism (PE), a life-threatening condition that occurs hen blood clots travel to the lungs. VTE affects 300,000 to 600,000 people in the United States ach year, and 30% will die from the disease within 1 month of diagnosis. Known risk factors for TE include recent surgery, cancer, trauma, and immobility. A number of genetic factors, many nvolved in the blood clotting cascade, have also been identified that may contribute to risk for VTE. Factor XIII (FXIII), also known as fibrin-stabilizing factor, is the final factor in the blood coagulation pathway, and plays an important role in clot formation and stabilization. In plasma, FXIII is composed of two subunits: the catalytic A subunit, and the carrier protein B subunit. FXIII A is encoded by the F13A1 gene on chromosome 6. A single base transition leading to an amino acid substitution in the mature FXIII A protein (F13A1 p.Val34Leu) has been associated with increased FXIII activity and abnormal clot structures that may be prone to degradation. Due to its potential effect on clot structure, F13A1 p.Val34Leu has been the focus of investigation in relation to risk of VTE.
Details
Project Status: Completed
Year Published: 2012
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Humans
  • Factor XIIIa
  • Polymorphism, Genetic
  • Genetic Testing
Contact
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name: saleinfo@hayesinc.com
Contact Email: saleinfo@hayesinc.com
Copyright: 2012 Winifred S. Hayes, Inc
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