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Related Experiment Video

Updated: Jun 21, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

Combined Factor V and Factor VIII Deficiency.

Marta Spreafico¹, Flora Peyvandi

¹A. Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, 20122 Milan, Italy.

Seminars in Thrombosis and Hemostasis

|July 15, 2009

Summary

This summary is machine-generated.

Combined deficiency of factor V (FV) and factor VIII (FVIII) is a rare bleeding disorder caused by mutations affecting FV and FVIII transport. This condition leads to mild-to-moderate bleeding, requiring fresh-frozen plasma for treatment.

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Area of Science:

Genetics
Hematology
Molecular Biology

Background:

Combined deficiency of factor V (FV) and factor VIII (FVIII), known as F5F8D, is an autosomal recessive bleeding disorder.
It results from mutations in LMAN1 or MCFD2 genes, which are crucial for intracellular transport of FV and FVIII.
Unlike other coagulation factor deficiencies, F5F8D is not caused by defects in the genes encoding FV and FVIII themselves.

Purpose of the Study:

To elucidate the genetic basis and clinical characteristics of combined factor V and VIII deficiency.
To understand the molecular mechanisms underlying impaired FV and FVIII transport in F5F8D.
To outline current treatment strategies for bleeding episodes in patients with F5F8D.

Main Methods:

Genetic analysis of LMAN1 and MCFD2 genes in affected individuals.
Assessment of FV and FVIII levels in patient plasma.
Review of clinical manifestations and treatment outcomes.

Main Results:

F5F8D is characterized by significantly reduced levels of both FV and FVIII (typically 5-20% of normal).
Mutations in LMAN1 and MCFD2 impair the ERGIC-53 mediated transport of FV and FVIII.
The disorder presents with mild to moderate bleeding tendencies.

Conclusions:

F5F8D is a distinct genetic disorder affecting FV and FVIII transport, not their synthesis.
Accurate diagnosis requires assessing both FV and FVIII levels and considering mutations in LMAN1/MCFD2.
Management involves fresh-frozen plasma for FV replacement and FFP or FVIII concentrates for FVIII replacement.