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

DOI: 10.1007/s00580-012-1469-7

Cite this article as:
Hamdy, M.S.ED., Gouda, H.M., Shaheen, I.AM. et al. Comp Clin Pathol (2013) 22: 697. doi:10.1007/s00580-012-1469-7
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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 diseaseFactor V LeidenProthrombin gene (G20210A) mutationVaso-occlusion crises

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