Combined deficiency of factors V and VIII

Definition:

Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as a cargo receptor for transport of coagulation factors V and VIII from ER to Golgi.

References:

[1]. Bin Zhang, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet. 2003 Jun;34(2):220-5. [Content Brief]

[2]. Bin Zhang, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood. 2006 Mar 1;107(5):1903-7. [Content Brief]

[3]. Bin Zhang, et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood. 2008 Jun 15;111(12):5592-600. [Content Brief]

[4]. M Spreafico, et al. Combined FV and FVIII deficiency. Haemophilia. 2008 Nov;14(6):1201-8. [Content Brief]

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