PREVALENCE OF FACTOR V LEIDEN MUTATION IN IRAQI PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA AND ITS ASSOCIATION WITH MPN DRIVER MUTATIONS: A CROSS-SECTIONAL STUDY
DOI:
https://doi.org/10.58564/AIMCJ3.2.2026.310Keywords:
Essential Thrombocythemia, Factor V Leiden, Triple-negative ET, Thrombophilia.Abstract
Essential thrombocythemia (ET) is a clonal myeloproliferative neoplasm caused by somatic mutations in JAK2, CALR, or MPL in around 80% of patients, with the remainder classified as triple-negative ET (TN-ET). Factor V Leiden (FVL) is the predominant genetic thrombophilia, and the prevalence of FVL among Iraqi ET patients remain ambiguous. This study hypothesised that the FVL may be an overlooked contributor to thrombotic risk in TN-ET.
To determine the prevalence of FVL in Iraqi ET patients, to define its coexistence with MPN driver mutations, and to examine its association with hematological markers.
A retrospective cross-sectional study was performed at Medical City Hospital in Baghdad from November 2025 to February 2026. Fifty ET patients were assessed for MPN driver mutations using the TRUPCR® MPN Panel and for FVL by PCR and Sanger sequencing. Fisher's exact test and logistic regression were employed. A post-hoc power analysis was performed.
FVL was identified in 21 patients (42.0%), MPN driver mutations in 8 patients (16.0%), and 42 patients (84.0%) were triple-negative. FVL was significantly associated with MPN positive (OR 14.00, 95% CI 1.52–63.36; p = 0.007) and remained significant after adjusting for age and sex (OR 13.56, 95% CI 1.46–126.37; p = 0.022). Fourteen individuals with TN-ET tested positive for FVL, constituting 33.3% of the TN-ET subgroup. No significant hematological differences were observed among the mutational categories. The post hoc power was 0.82.
This Iraqi analysis study reveals a notable prevalence of FVL and a strong independent correlation between FVL and MPN. Our hypothesis that genetic APC resistance may constitute the primary prothrombotic mechanism in these patients is corroborated by the FVL-positive TN-ET subgroup. Routine FVL testing is recommended in Iraqi ET practice regardless of driver mutation status.
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Copyright (c) 2026 Aqbal Faiq Mohammed, Prof. Anfal Mohammed Khudhir, Dr. Dunia Jawad Ridha
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