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Updated: Nov 4, 2025
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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
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Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.
Aliza Cassel1, Nurit Rosenberg2,3, Emad Muhammad1
1Institute of Hematology Carmel Medical Center Haifa Israel.
Research and Practice in Thrombosis and Haemostasis
|May 24, 2021
Summary
Individuals with factor VII (FVII) deficiency and very low FVII activity may have mild bleeding tendencies. This study identifies a novel FVII mutation and its functional impact on thrombin generation.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Inherited factor VII (FVII) deficiency diagnosis is challenging as FVII activity levels do not reliably predict bleeding risk.
- Understanding the molecular basis of FVII variants is crucial for improved clinical management.
Purpose of the Study:
- To investigate the molecular and functional characteristics of FVII in a family with FVII deficiency.
- To correlate these findings with the observed bleeding tendencies.
Main Methods:
- Studied 7 family members with low FVII activity using prothrombin time (PT), FVII activity, FVII antigen, and thrombin generation assays.
- Performed factor 7 gene sequencing and analyzed the identified mutation using prediction software.
Main Results:
- Identified a novel homozygous missense mutation Cys164Tyr in a proband with 0%-4% FVII activity.
- A compound heterozygote with Cys164Tyr and Ala244Val mutations showed 3%-7% FVII activity.
- Thrombin generation was impaired in homozygous and compound heterozygous individuals, correlating with clinical manifestations.
Conclusions:
- The novel Cys164Tyr mutation (Carmel mutation) in homozygous state leads to very low FVII activity but mild clinical symptoms.
- Functional assays, particularly thrombin generation, provide better correlation with bleeding tendency than FVII activity alone in FVII deficiency.
