Original Article

Comparative Clinical Pathology

, Volume 22, Issue 4, pp 697-702

Prevalence of factor V Leiden (G1619A) and prothrombin gene (G20210A) mutation in Egyptian children with sickle cell disease

  • Mona Salah El-Din HamdyAffiliated withDepartment of Clinical Pathology & Chemical Pathology, Faculty of Medicine-Cairo University
  • , Heba Mahmoud GoudaAffiliated withDepartment of Clinical Pathology & Chemical Pathology, Faculty of Medicine-Cairo University
  • , Iman Abdel-Mohsen ShaheenAffiliated withDepartment of Clinical Pathology & Chemical Pathology, Faculty of Medicine-Cairo UniversityDepartment of Clinical & Chemical Pathology, Faculty of Medicine, Cairo University Email author 
  • , Mervat M. KhorshiedAffiliated withDepartment of Clinical Pathology & Chemical Pathology, Faculty of Medicine-Cairo University
  • , Rania Hosny TomerakAffiliated withDepartment of Pediatrics, Faculty of Medicine-Cairo University

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Abstract

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.

Keywords

Sickle cell disease Factor V Leiden Prothrombin gene (G20210A) mutation Vaso-occlusion crises