Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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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.

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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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.

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21.

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

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22.

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

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23.

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

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