Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Factor XII deficiency

Hageman factor deficiency is a deficiency of coagulation factor 12 which results from mutations of the F12 gene. Although homozygous carriers with no detectable activityshow only mild coagulation abnormalities such as bleeding and thrombophilia, in some families heterozygous carriers also show some coagulation abnormalities.

Systematic

Hereditary bleeding disorders
Afibrinogenemia
Disturbances of vitamin K metabolism
Dysfibrinogenemia
Factor XII deficiency
F12
Factor XIII A subunit deficiency
Factor XIII B subunit deficiency
Plasminogen activator inhibitor deficiency

References:

1.

Bernardi F et. al. (1987) Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

[^]
2.

Royle NJ et. al. (1988) Structural gene encoding human factor XII is located at 5q33-qter.

[^]
3.

Josso F et. al. (1968) [Probable localisation of a Hageman (factor XII) locus on an autosome].

[^]
4.

None (2003) Oscar Ratnoff: his contributions to the golden era of coagulation research.

[^]
5.

None (1964) AN ENZYME CASCADE IN THE BLOOD CLOTTING MECHANISM, AND ITS FUNCTION AS A BIOCHEMICAL AMPLIFIER.

[^]
6.

Renné T et. al. (2005) Defective thrombus formation in mice lacking coagulation factor XII.

[^]
7.

Lucia JF et. al. (1979) Factor-XII congenital deficiency. A new family study.

[^]
8.

Donaldson VH et. al. (1977) Fatal vascular disease in a patient with Hageman trait and a connective-tissue disorder.

[^]
9.

Lämmle B et. al. (1991) Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families.

[^]
10.

Samlaska CP et. al. (1990) Superficial migratory thrombophlebitis and factor XII deficiency.

[^]
11.

Bennett B et. al. (1972) Hageman trait (factor XII deficiency): a probably second genotype inherited as an autosomal dominant characteristic.

[^]
12.

Miwa S et. al. (1968) Hageman factor deficiency. Report of a case found in a Japanese girl.

[^]
13.

None (1970) Factor XII defect and hemorrhage. Evidence for a new type of hereditary hemostatic disorder.

[^]
14.

Goodnough LT et. al. (1983) Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases.

[^]
15.

None (1980) A quarter century with Mr. Hageman.

[^]
16.

Gordon EM et. al. (1981) Reduced titers of Hageman factor (factor XII) in Orientals.

[^]
17.

Koster T et. al. (1994) John Hageman's factor and deep-vein thrombosis: Leiden thrombophilia Study.

[^]
18.

Braulke I et. al. (1993) Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters?

[^]
19.

Sato-Matsumura KC et. al. (2000) Factor XII deficiency: a possible cause of livedo with ulceration?

[^]
20.

Soria JM et. al. (2002) A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease.

[^]
21.

RATNOFF OD et. al. (1962) Further studies on the inheritance of Hageman trait.

[^]
22.

Kuhli C et. al. (2004) Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion.

[^]
23.

Girolami A et. al. (2005) Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation.

[^]
Update: Sept. 26, 2018