Prevalence of factor V Leiden (G1619A) and prothrombin gene (G20210A) mutation in Egyptian children with sickle cell disease
Patients with sickle cell disease (SCD) show activation of the blood coagulation. The purpose of the current study was to detect the prevalence of factor V Leiden (G1691A) and prothrombin gene (G20210A) mutations in a group of Egyptian children with SCD, and to clear out their possible role as genetic risk factors for vaso-occlusive crises (VOC) in SCD. The current study included fifty Egyptian SCD children and fifty age and sex matched healthy children as a control group. Genotyping was performed by polymerase chain reaction restriction fragment length polymorphism technique. Heterozygous factor V Leiden was significantly higher in the SCD patients (30 %) compared to controls (16 %), while there was no statistical difference between the two groups regarding heterozygous prothrombin gene (G20210A) mutation. Factor V Leiden conferred increased risk of VOC in SCD patients (OR = 1.7, 95 %CI = 1.01–3.43). Screening for factor V Leiden in SCD patients is recommended to verify patients at higher risk of VOC.
KeywordsSickle cell disease Factor V Leiden Prothrombin gene (G20210A) mutation Vaso-occlusion crises
- El-Karaksy H, El-Koofy N, El-Hawary M, Mostafa M, Aziz M, El-Shabrawi M et al (2004) Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein hrombosis: results of a single-center case–control study. Ann Hematol 83:712–715PubMedCrossRefGoogle Scholar
- Moreria Neto F, Lourenco DM, Noguti MA, Morelli VM, Gill IC, Beltrao AC et al (2006) The clinical impact of MTHFR polymorphism on vascular complications of SCD. Braz J Med Biol Res 39:1291–1295Google Scholar
- Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996) A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and increase in venous thrombosis. Blood 88:3697–3703Google Scholar