Comparative Clinical Pathology

, Volume 22, Issue 4, pp 697–702 | Cite as

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

  • Mona Salah El-Din Hamdy
  • Heba Mahmoud Gouda
  • Iman Abdel-Mohsen Shaheen
  • Mervat M. Khorshied
  • Rania Hosny Tomerak
Original Article

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 

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Copyright information

© Springer-Verlag London Limited 2012

Authors and Affiliations

  • Mona Salah El-Din Hamdy
    • 1
  • Heba Mahmoud Gouda
    • 1
  • Iman Abdel-Mohsen Shaheen
    • 1
    • 3
  • Mervat M. Khorshied
    • 1
  • Rania Hosny Tomerak
    • 2
  1. 1.Department of Clinical Pathology & Chemical PathologyFaculty of Medicine-Cairo UniversityGizaEgypt
  2. 2.Department of PediatricsFaculty of Medicine-Cairo UniversityGizaEgypt
  3. 3.Department of Clinical & Chemical Pathology, Faculty of MedicineCairo UniversityCairoEgypt

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