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

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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.

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Acknowledgement

We thank all SCD patients and healthy volunteers whom we conducted our study upon. We would like to express all our appreciations to our colleagues, nurses, and technicians in the clinical pathology unit and hematology unit who facilitated this work.

Funding

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

This research had been approved by the ethical committee of the clinical and chemical pathology department.

On behalf of my co-authors, I submit the enclosed manuscript for consideration by the Journal. It has not been published in this or a substantially similar form (in print or electronically, including on a web site) nor accepted for publication elsewhere, nor is it under consideration by another publication.

All authors have signed this letter as confirmation that they have read and approved the paper, have met the criteria for authorship as established by the International Committee of Medical Journals Editors, believe that the paper represents honest work, and are able to verify the validity of the results reported.

Conflict of interest

All authors have no conflict of interest.

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Authors and Affiliations

  1. Department of Clinical Pathology & Chemical Pathology, Faculty of Medicine-Cairo University, Giza, Egypt

    Mona Salah El-Din Hamdy, Heba Mahmoud Gouda, Iman Abdel-Mohsen Shaheen & Mervat M. Khorshied

  2. Department of Pediatrics, Faculty of Medicine-Cairo University, Giza, Egypt

    Rania Hosny Tomerak

  3. Department of Clinical & Chemical Pathology, Faculty of Medicine, Cairo University, El-Manial, Cairo, Egypt, 11562

    Iman Abdel-Mohsen Shaheen

Authors
  1. Mona Salah El-Din Hamdy
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  2. Heba Mahmoud Gouda
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  3. Iman Abdel-Mohsen Shaheen
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  4. Mervat M. Khorshied
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  5. Rania Hosny Tomerak
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Correspondence to Iman Abdel-Mohsen Shaheen.

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Hamdy, M.S.ED., Gouda, H.M., Shaheen, I.AM. et al. Prevalence of factor V Leiden (G1619A) and prothrombin gene (G20210A) mutation in Egyptian children with sickle cell disease. Comp Clin Pathol 22, 697–702 (2013). https://doi.org/10.1007/s00580-012-1469-7

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  • DOI: https://doi.org/10.1007/s00580-012-1469-7

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