Hemophilia A: Characterization of Genetic Defects by the Single Strand Conformation Polymorphism (SSCP)

  • Shu-Wha Lin
  • Shu-Rung Lin
  • Ming-Ching Shen
Conference paper


Hemophilia A is an X-linked hereditary bleeding disorder caused by deleterious mutations in the gene coding for factor VIII. Factor VIII deficiency is heterogeneous and patients are categorized into severe, moderate and mild hemophiliacs according to the levels of their functional factor VIII. Approximately 1/3 of the cases are due to de novo mutations1. Factor VIII is important for normal hemostasis in that it participates in the intrinsic pathway of the coagulation cascade and serves as a cofactor for factor IX. And it accelerates the enzymatic reaction of the activation of factor X by activated factor IX. The generated factor Xa then activates prothrombin to thrombin which then cleaves fibrinogen to fibrin.


Factor VIII Single Strand Conformation Polymorphism Severe Hemophilia Chinese Origin Single Strand Conformation Polymorphism Analysis 
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Copyright information

© Springer Japan 1993

Authors and Affiliations

  • Shu-Wha Lin
    • 1
  • Shu-Rung Lin
    • 1
  • Ming-Ching Shen
    • 1
  1. 1.Graduate Institute of Medical Technology, Hematology Center, and Department of Clinical PathologyNational Taiwan University, School of MedicineTaipeiTaiwan, ROC

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