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Updated: Sep 20, 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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Factor VII Padua in Iran: A Study on 150 Patients With Factor VII Deficiency
Seyed Mehrab Safdari1, Mahmood Barati2, Soudabeh Hosseini1,3
1Departments of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Summary
Factor VII Padua, a rare bleeding disorder, is relatively common in Iran. Genetic testing is crucial for accurate diagnosis and management of patients with FVII deficiency to prevent complications.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Factor VII (FVII) Padua is an ultra-rare Type II deficiency with variable FVII activity.
- Rare bleeding disorders are more prevalent in Iran due to consanguineous marriages.
- Accurate identification of FVII Padua is vital to prevent misdiagnosis and thrombotic risks.
Purpose of the Study:
- To determine the incidence of FVII Padua in Iranian patients with FVII deficiency.
- To characterize the clinical and laboratory features of FVII Padua in this population.
Main Methods:
- 150 Iranian patients with confirmed FVII deficiency were analyzed.
- Prothrombin time (PT) testing was performed using three different thromboplastins.
- Genetic analysis of F7 exon 9, including HRM and sequencing, was conducted for suspected FVII Padua cases.
Main Results:
- 8.6% of patients showed PT patterns consistent with FVII Padua.
- Genetic analysis confirmed the Arg364Gln mutation in two patients, with nine heterozygous and two homozygous cases identified.
- Clinical presentations varied from asymptomatic to bleeding symptoms like epistaxis and bruising.
Conclusions:
- FVII Padua exhibits a notable prevalence among Iranian patients with FVII deficiency.
- Molecular testing is essential for precise diagnosis and appropriate patient management.
- Targeted diagnostic approaches are necessary in high-consanguinity regions to optimize care and mitigate thrombotic risks.
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