Document Details

Document Type : Thesis 
Document Title :
Prevalence of Common Thrombophilic Mutations among Sickle Cell Disease Patients in the Western Province of Saudi Arabia
نسبة انتشار أشهر الطفرات الجينية المسببة لتجلط الدم بين مرضى الأنيميا المنجلية في غرب المملكة العربية السعودية
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Background: Vascular thrombosis is the pathophysiological complications of sickle cell disease (SCD). Inherited thrombophilic mutations may play a role in increasing the risk of thrombosis in sickle cell patients. Factor V Leiden G1691A (FVL), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T are the most common genetic mutations result in thrombophilia and considered as risk factors that may trigger vascular complications. Therefore, this study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A, MTHFR C677T and prothrombin G20210A mutations among Saudi sickle cell patients. Methods: 90 Saudi sickle cell patients and 90 healthy individuals were recruited. Genotyping of the three thrompophilic mutations was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: The results showed that heterozygous factor V Leiden was found in 29/90 (32.2%) of sickle cell patients and 2/90 (2.2%) in control subjects (p<0.001). Homozygous FVL wasn't seen among patients and control. Heterozygous prothrombin G20210A was present in 18/90 (20.0%) of sickle cell patients compared to 1/90 (1.1%) healthy individuals (p<0.001). Regarding homozygote type of prothrombin G20210A, the prevalence in sickle cell group was 2.2% (p<0.001). Concerning the MTHFR C677T, the prevalence of heterozygote type was 17.8% in the sickle cell group compared to 10% in the control, and regarding homozygote type, the prevalence in sickle cell patients was 1.1% compared to none in control but these differences were not statistically significant. Conclusion: Because of the high prevalence of Factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T among Saudi sickle cell patients, these genetic polymorphisms may act as major risk factors for developing vascular complications in patients with SCD. 
Supervisor : Dr. Talal Qadah 
Thesis Type : Master Thesis 
Publishing Year : 1443 AH
2022 AD 
Co-Supervisor : Dr. Raed Alserehi 
Added Date : Friday, January 6, 2023 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
رشــا كـمــال دسـوقـيDesuqi, Rasha ResearcherMaster 

Files

File NameTypeDescription
 48801.pdf pdf 

Back To Researches Page