ISSN 2997-1036
International Journal of Hematology | Vol. 1, No. 12, December 2010 | pp. 89–96
DOI: 10.46882/2010/IJH/000012
Original Article
Title: Screening for Factor V Leiden and Prothrombin G20210A mutations in patients with unprovoked venous thromboembolism
Names of Authors: S. I. Effiong¹, K. U. Haruna², Y. A. Bello³
Authors’ Affiliations: ¹Department of Haematology, University of Uyo, Uyo, Nigeria; ²Department of Pathology, Bayero University, Kano, Nigeria; ³Department of Medical Laboratory Science, Rivers State University, Port Harcourt, Nigeria
Abstract: Inherited thrombophilias contribute significantly to the pathogenesis of venous thromboembolism, yet genetic screening protocols vary widely by region. This cross-sectional study investigated the prevalence of Factor V Leiden (G1691A) and Prothrombin (G20210A) gene mutations among 120 indigenous patients presenting with objectively confirmed, unprovoked deep vein thrombosis or pulmonary embolism. Genomic DNA was extracted from peripheral blood leucocytes, followed by polymerase chain reaction-restriction fragment length polymorphism analysis. Among the 120 patients evaluated, Factor V Leiden mutation was detected in only 1 patient (0.83% heterozygosity), while the Prothrombin G20210A mutation was entirely absent (0.0%). In contrast, baseline functional assays revealed that protein C deficiency was present in 8.3% of cases, protein S deficiency in 10.0%, and antithrombin deficiency in 5.0%. These results confirm that classical European genetic thrombophilia mutations are rare in the West African population. Consequently, routine diagnostic algorithms for unprovoked venous thromboembolism in this region should prioritize functional natural anticoagulant assays over expensive genetic screening for Factor V Leiden and Prothrombin mutations.
Keywords: Venous thromboembolism, Factor V Leiden, Prothrombin mutation, thrombophilia, polymerase chain reaction
Manuscript Timeline: Received: September 05, 2010; Revised: October 14, 2010; Accepted: November 02, 2010; Published: December 10, 2010