Data di Pubblicazione:
2009
Citazione:
Combined factor V and factor VIII deficiency [Recensione] / M. Spreafico, F. Peyvandi. - In: SEMINARS IN THROMBOSIS AND HEMOSTASIS. - ISSN 0094-6176. - 35:4(2009 Jun), pp. 390-399. [10.1055/s-0029-1225761]
Abstract:
Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ( MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the corresponding coagulation factors. F5F8D is estimated to be extremely rare (1:1,000,000) in the general population, but an increased frequency is observed in regions where consanguineous marriages are practiced. F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII and is associated with a mild to moderate bleeding tendency. Treatment of bleeding episodes requires a source of both FV and FVIII; replacement of FV is achieved only through use of fresh-frozen plasma (FFP) and replacement of FVIII by FFP and desmopressin or specific FVIII concentrates (plasma-derived or recombinant FVIII products)
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Combined FV+FVIII deficiency; F5F8D; LMAN1; MCFD2
Elenco autori:
M. Spreafico, F. Peyvandi
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