Skip to main content
SpringerLink
Log in

Molecular Testing for Coagulopathies

  • Chapter
Molecular Genetic Pathology

  • 2053 Accesses

Abstract

Sudden and severe loss of blood can lead to shock and death. When blood vessels are damaged, Hemostasis (clot formation) will arrest bleeding. This proces is divided into primary and secondary hemostasis.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 149.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Suggested reading

  • Bagnall RD, Waseem N, Green PM, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002;99:168–174.

    Article  CAS  PubMed  Google Scholar 

  • Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64.

    Article  CAS  PubMed  Google Scholar 

  • Bowen DJ, Keeney S. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A. Thromb Haemost. 2003;89:201–202.

    CAS  PubMed  Google Scholar 

  • Brinke A, Tagliavacca L, Naylor J, et al. Hum Mol Genet. 1996;5:1945–1951.

    Article  CAS  PubMed  Google Scholar 

  • Dahlback B. Inherited resistance to activated protein C, a major case of venous thrombosis, is due to a mutation in the factor V gene. Haemostasis 1994;24:139.

    CAS  PubMed  Google Scholar 

  • Doggen CJM, Kunz G, Rosendaal FR, et al. A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction. Thromb Haemost. 1998;80:743.

    CAS  PubMed  Google Scholar 

  • Gardemann A, Schwartz O, Haberbosch W, et al. Positive association of the b fibrinogen H1/H2 gene variation to basal fibrinogen levels and to increase in fibrinogen concentration during acute phase reaction but not to coronary artery disease and myocardial infarction. Thromb Haemost. 1997;77:1120.

    CAS  PubMed  Google Scholar 

  • Hooper WC, Lally C, Austin H, et al. The role of the tissue-type plasminogen activator I/D and PAI-1 4G/5G polymorphisms in African-American adults with a diagnosis of myocardial infarction or venous thromboembolism. Thromb Res. 2000;1:223–230.

    Article  Google Scholar 

  • Key N, McGlennen RC. Hyperhomocysteinemia. Archives of Pathology and Lagoratory Medicine. 2002;126:1367–1375.

    CAS  Google Scholar 

  • Kohler HP, Futers T, Grant P. Prevalence of three common polymorphisms in the a-subunit gene of factor XIII in patients with coronary artery disease: association with FXIII activity and antigen levels. Thromb Haemost. 1999;81:511.

    CAS  PubMed  Google Scholar 

  • Koster T, Blann AD, Briet E, et al. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep vein thrombosis. Lancet 1995;345:152.

    Article  CAS  PubMed  Google Scholar 

  • Lane DA, Grant PJ. Role of hemostatic gene polymorphism in venous and arterial thrombotic disease. Blood 1999;95:1517–1532.

    Google Scholar 

  • McGlennen RC, Key N. Clinical and Laboratory Management of the Prothrombin G20210A Mutation, Archives of Pathology and Laboratory. Medicine 2002;126:1319–1325.

    CAS  Google Scholar 

  • Nguyen V, et al. Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions. Biotechniques 2004;37:360–364.

    CAS  PubMed  Google Scholar 

  • Qiang Liu, Guity Nozari, Steve S. Sommer: single tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998;92:1458–1459.

    CAS  PubMed  Google Scholar 

  • Tybjaerg-Hansen A, Agerholm-Larsen B, Humphries SE, et al. A common mutation (G−455-A) in the b-fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heart disease: a study of 9,127 individuals based on the Copenhangen City Heart Study. J Clin Invest. 1997;99:3034.

    Article  CAS  PubMed  Google Scholar 

  • Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet 1994;343:1535.

    Article  CAS  PubMed  Google Scholar 

  • Wang XL, Wang J, McCredie RM, et al. Polymorphisms of factor V. factor VII, and fibrinogen genes: relevance to severity of coronary artery disease. Arterioscler Thromb Vasc Biol. 1997;17:246.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Hemostasis and Thrombosis Center, Duke University Medical Center, Durham, NC

    Veshana Ramiah MD (Hematology/Oncology Fellow) & Thomas L. Ortel MD, PhD (Associate Professor of Medicine and Pathology)

Authors
  1. Veshana Ramiah MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Thomas L. Ortel MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine and Clarian Pathology Laboratory, Indiana University School of Medicine, Indianapolis, IN

    Liang Cheng MD (Professor of Pathology and Urology, Director of Molecular Pathology Laboratory, Chief of Genitourinary Pathology Division) (Professor of Pathology and Urology, Director of Molecular Pathology Laboratory, Chief of Genitourinary Pathology Division)

  2. Department of Pathology, Mount Sinai School of Medicine, New York, NY

    David Y. Zhang MD, PhD, MPH (Associate Professor of Pathology Director, Molecular Pathology Laboratory) (Associate Professor of Pathology Director, Molecular Pathology Laboratory)

  3. Mount Sinai Medical Center, New York, NY

    David Y. Zhang MD, PhD, MPH (Associate Professor of Pathology Director, Molecular Pathology Laboratory) (Associate Professor of Pathology Director, Molecular Pathology Laboratory)

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Humana Press, a part of Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Ramiah, V., Ortel, T.L. (2008). Molecular Testing for Coagulopathies. In: Cheng, L., Zhang, D.Y. (eds) Molecular Genetic Pathology. Humana Press. https://doi.org/10.1007/978-1-59745-405-6_23

Download citation

  • DOI: https://doi.org/10.1007/978-1-59745-405-6_23

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-974-1

  • Online ISBN: 978-1-59745-405-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation