Last Updated: October 5, 2022 Introduction to von Willebrand Disease von Willebrand disease (vWD) is caused by deficiencies in the protein von Willebrand factor (vWF). vWF is a multi-subunit glycoprotein that is found in subendothelial connective tissue, the...
Disorders of Coagulation Factors
Glanzmann Thrombasthenia
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Glanzmann Thrombasthenia Glanzmann thrombasthenia (weak platelets) is an autosomal recessive disorder affecting the processes of blood coagulation that was originally described in 1918 by the Swiss pediatrician W.E....
Protein C Deficiency
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Protein C Protein C (PC) is a trypsin-like serine protease that serves as a major regulator of the blood coagulation process. Protein S (PS) serves as a co-factor for the functions of activated protein C (abbreviated aPC,...
Factor XIII Deficiency
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Factor XIII Factor XIII is also called protransglutaminase, fibrin stabilizing factor (FSF), and fibrinoligase. Factor XIII is found both in the plasma and in platelets. The plasma version is a heterodimeric enzyme...
Factor XII Deficiency
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Factor XII Factor XII is also know, historically, as Hageman factor. Factor XII is involved in the activation of the intrinsic coagulation cascade. The intrinsic coagulation cascade is activated by contact of a complex...
Factor XI Deficiency
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Factor XI Factor XI is historically known as plasma thromboplastin antecedent (PTA). Factor XI participates in the intrinsic coagulation cascade. Factor XI is activated to XIa by a complex of high molecular weight...
Factor X Deficiency
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: October 5, 2022 Introduction to Factor X Factor X is historically identified as Stuart-Prower Factor. Factor X, along with prothrombin, factors VII, and IX, protein C, protein S, and protein Z, is modified by the vitamin K-dependent enzyme, γ-glutamyl...
Hemophilia B
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: January 19, 2024 Introduction to Hemophilia B Hemophilia B, also known as factor IX deficiency or Christmas disease, is an X-linked recessive bleeding disorder caused by defects in the vitamin K-dependent enzyme, factor IX, of the clotting...
Hemophilia A
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: January 19, 2024 Introduction to Hemophilia A Hemophilia A is referred to as classic hemophilia and was first recognized in the second century AD. The disease is an X-linked recessive bleeding disorder caused by defects in the clotting...
Factor V Leiden Thrombophilia
Diseases and Disorders, Disorders of Coagulation Factors
Last Updated: December 21, 2023 Role of Protein C in Coagulation Protein C (PC) is a trypsin-like serine protease that serves as a major regulator of the coagulation process. Protein S (PS) serves as a co-factor for the functions of activated protein C (abbreviated...