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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.

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

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

OMIM.ORG article

Omim 234000 external link
25.

Wikipedia article

Wikipedia EN (Factor_XII_deficiency) external link
Update: Aug. 14, 2020
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