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Hamostaseologie 1994; 14(04): 190-194
DOI: 10.1055/s-0038-1660363
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Schattauer GmbH

Molekularbiologische Grundlagen des Faktor-X-Mangels

H. H. Watzke
1   Abteilung für Hämatologie und Hämostaseologie, Klinik für Innere Medizin I, Wien
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Publication History

Publication Date:
26 June 2018 (online)

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Zusammenfassung

Faktor X ist ein Vitamin-K-abhängiges Plasmaprotein, das eine zentrale Stellung in der Blutgerinnung einnimmt. Durch Interaktionen mit Faktor Vlla/Gewebsfaktor und Faktor IXa/FVIlia wird das Proenzym FXzum Enzym Faktor Xa aktiviert. Faktor Xa wiederum ist das wesentlichste Enzym in der Aktivierung von Prothrombin zu Thrombin. Der hereditäre Faktor-X-Mangel ist eine schwere Erkrankung, die durch eine hämorrhagische Diathese unterschiedlichen Schweregrades gekennzeichnet ist. Durch die Darstellung der Nukleotidsequenz des normalen Faktor-X- . Gens wurde die Aufschlüsselung der genetischen Defekte, die dem hereditären Faktor-X-Mangel zugrunde liegen, ermöglicht. Dies hat nicht zu einer verbesserten Gendiagnostik in den wenigen bisher beschriebenen Fällen geführt, sondern hat vor allem auch Einblicke in die Struktur-Funktions-Beziehungen des Faktor-X- Moleküls erbracht.

Schlüsselwörter

Faktor X - Faktor-X-Mangel - genetische Defekte
 

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