Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children

ABSTRACT

Background

Due to their chronic hypercoagulable status, thalassemic individuals are at an elevated risk of developing thromboembolic sequence consequences. The goal of the current study is to assesses the EPCR gene polymorphism and soluble EPCR in Egyptian thalassemic children and its role in hypercoagulable state.

Research design and methods

Eighty children diagnosed as thalassemia major and 80 healthy youngsters as a control group. The EPCR gene was identified using a restriction fragment length polymerase chain reaction (RFLP PCR). Additionally, we assessed the soluble EPCR levels using an enzyme-linked immunosorbent assay (ELISA).

Results

Frequency of 1651C-G EPCR, the GC genotype was strongly related with an increased risk of coagulation (OR = 1.83 (0.64–5.26), P = 0.0.016). In addition, soluble EPCR was considerably higher in patients with thalassemia than in controls, P value <0.001. Our study revealed significance difference between soluble EPCR and different genotypes.

Conclusion

Polymorphisms in the EPCR gene and an elevated soluble EPCR level in patients with β-thalassemia major may contribute to these patients’ hemostatic derangement in thalassemic Egyptian children.

KEYWORDS:

• EPCR
• polymorphism
• thalassemia
• thromboembolism

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Author contributions

M Hesham, AS Ali, SM Abogabela, and WA Mokhtara contributed to the design and performance of the research, recruited pediatric patients and collected their data. A Fawzy and NM Mohamed performed the laboratory work. All authors participated in data analysis, performed the statistics, and wrote the paper.

Ethical approval and patient consent

The study follows the principles of the Declaration of Helsinki in addition to obtaining participatory consent from all patients. For patients that could not provide consent, someone provided consent on their behalf accordingly. i.e. a parent or carer.

Abbreviations

EPCR: endothelial Protein C Receptor, PC: protein C, APC: activated protein C, sEPCR: soluble endothelial protein C receptor, TNFα): tumor necrosis factor α, IL-1β: Interleukin-1β

Additional information

Funding

This paper was not funded.