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Hamostaseologie 1994; 14(04): 176-183
DOI: 10.1055/s-0038-1660361
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Schattauer GmbH

Molekularbiologische Grundlagen und Diagnostik der Hämophilie B

H. H. Watzke
1   Abteilung für Hämatologie und Hämostaseologie, Klinik für Innere Medizin I, Wien
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Publication Date:
26 June 2018 (online)

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Zusammenfassung

Die Hämophilie B beruht auf einer verminderten plasmatischen Gerinnungsaktivität von Faktor IX. Dieser Defekt ist entweder durch eine verminderte Produktion von Faktor IX bedingt oder geht auf ein funktionell defektes oder auch instabiles Faktor-lX-Protein zurück. Aus klinischer Sicht ist die Hämophilie B eine Erkrankung mit einem unterschiedlichen Ausprägungsmuster, wobei die Schwere der durch den Faktor-IX-Defekt hervorgerufenen Blutungsneigung eng mit der Faktor-IX-Aktivität korreliert. Die genetische Basis dieser Erkrankung sind Mutationen im Faktor-IX-Gen. Bisher konnte der genetische Defekt bei mehr als 800 verschiedenen Patienten auf Genniveau geklärt werden. Das hat sehr wesentlich zu einem vertieften Verständnis der genetischen Ursachen der Hämophilie B geführt und den Einblick in die Struktur-Funktions-Beziehungen des FIX-Moleküls ermöglicht. Darüber hinaus wurde die pränatale Diagnostik der Hämophilie B und die Diagnostik ihres Carrierstatus entscheidend verbessert.

Schlüsselwörter

Hämophilie B - Faktor IX - genetische Defekte
 

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