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 (plasmaderived or recombinant FVIII products).
| Original language | English |
|---|---|
| Pages (from-to) | 390-399 |
| Number of pages | 10 |
| Journal | Seminars in Thrombosis and Hemostasis |
| Volume | 35 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Jun 2009 |
Fingerprint
Keywords
- Combined FV+FVIII deficiency
- F5F8D
- LMAN1
- MCFD2
ASJC Scopus subject areas
- Hematology
- Cardiology and Cardiovascular Medicine
Cite this
Combined factor V and factor VIII deficiency. / Spreafico, Marta; Peyvandi, Flora.
In: Seminars in Thrombosis and Hemostasis, Vol. 35, No. 4, 06.2009, p. 390-399.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Combined factor V and factor VIII deficiency
AU - Spreafico, Marta
AU - Peyvandi, Flora
PY - 2009/6
Y1 - 2009/6
N2 - 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 (plasmaderived or recombinant FVIII products).
AB - 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 (plasmaderived or recombinant FVIII products).
KW - Combined FV+FVIII deficiency
KW - F5F8D
KW - LMAN1
KW - MCFD2
UR - http://www.scopus.com/inward/record.url?scp=67749130935&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67749130935&partnerID=8YFLogxK
U2 - 10.1055/s-0029-1225761
DO - 10.1055/s-0029-1225761
M3 - Article
C2 - 19598067
AN - SCOPUS:67749130935
VL - 35
SP - 390
EP - 399
JO - Seminars in Thrombosis and Hemostasis
JF - Seminars in Thrombosis and Hemostasis
SN - 0094-6176
IS - 4
ER -