Diseases of hemostasis

Stable Identifier
Homo sapiens
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Hemostasis is a complex process that leads to the formation of a blood clot at the site of vessel injury. Three phases can be distinguished: primary hemostasis or formation of a platelet plug, secondary hemostasis, or coagulation and fibrinolysis (Kriz N et al. 2009). Defects in hemostasis cause an imbalance between the coagulation and fibrinolytic systems and may lead either to hypercoagulation, which can result in thrombosis, or to hypocoagulation and increased susceptibility to bleeding (also known as hemorrhagic diathesis) (van Herrewegen F et al. 2012a,b; Kumar R & Carcao M 2013). Abnormalities can result from disorders of the platelets (primary hemostasis defect), coagulation factors defects (secondary hemostasis defect), or a combination of both (van Herrewegen F et al. 2012a,b; Kumar R & Carcao M 2013). Coagulation disorders may be inherited or acquired. Further, abnormalities of the coagulation and fibrinolytic systems are coupled to the inflammatory response, which aggravates blood vessel permeability, inflammation, and cell damage in tissues (Sandra Margetic 2012; Kaplan AP & Joseph K 2016).

This Reactome module describes abnormalities of the coagulation cascade (secondary hemostasis) due to defects of coagulation factor proteins such as factor VIII (FVIII), FIX or FXII. The module also describes an abnormal FXII- mediated activation of the pro-inflammatory kallikreinā€kinin system (KKS) that leads to an excessive formation of bradykinin causing increased vascular permeability at the level of the post capillary venule and results in hereditary angioedema (HAE).

Literature References
PubMed ID Title Journal Year
21800040 The bleeding child. Part I: primary hemostatic disorders

Peters, M, van Ommen, CH

Eur. J. Pediatr. 2012
27273087 Complement, Kinins, and Hereditary Angioedema: Mechanisms of Plasma Instability when C1 Inhibitor is Absent

Joseph, K, Kaplan, AP

Clin Rev Allergy Immunol 2016
31399527 Hemophilia A and B: molecular and clinical similarities and differences

Matino, D, Castaman, G

Haematologica 2019
21922352 Clinical practice: the bleeding child. Part II: disorders of secondary hemostasis and fibrinolysis

van Herrewegen, F, Meijers, JC, Peters, M, van Ommen, CH

Eur. J. Pediatr. 2012
24237980 Inherited abnormalities of coagulation: hemophilia, von Willebrand disease, and beyond

Kumar, R, Carcao, M

Pediatr. Clin. North Am. 2013
as an event of
Name Identifier Synonyms
C1 inhibitor deficiency DOID:0060002 Quincke edema
hereditary angioedema DOID:14735 HANE, Hereditary angioedema, Hereditary angioneurotic edema
thrombophilia DOID:2452 hypercoagulability state
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
hemophilia B DOID:12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
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