Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Faktor XII-Mangel

Der Hageman-Faktor-Mangel ist ein Mangel an Gerinnungsfaktor 12 der durch Mutationen im F12-Gen ausgelöst wird. Die Erkrankung äußert sich auch im homozygoten Zustand nur in einer milden Gerinnungsstörung oder Thrombophilie. Erstaunlicherweise finden sich auch bei einigen heterozygoten Anlageträgern mit noch vorhandener Restaktivität Abnormalitäten des Gerinnungssystems.

Gliederung

Erbliche Blutungsübel
Afibrinogenämie
Dysfibrinogenemie
Faktor XII-Mangel
F12
Faktor XIII A-Mangel
Faktor XIII B-Mangel
Plasminogen-Aktivator-Inhibitor-Mangel
Störungen des Vitamin K-Stoffwechsels

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
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.

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
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.

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

OMIM.ORG article

Omim 234000 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz