JAK2 V617F Mutation in Patients with Thrombosis
Azza Ibrahim Ismail Raslan *
Department of Clinical Pathology, Faculty of Medicine, Tanta University, Egypt.
Heba Ahmed Mourad
Department of Clinical Pathology, Faculty of Medicine, Tanta University, Egypt.
Amira Youssef Ahmed
Department of Clinical Pathology, Faculty of Medicine, Tanta University, Egypt.
Atef Mohamed Taha
Department of Internal Medicine, Faculty of Medicine, Tanta University, Egypt.
Mohamed Kamal Zahra
Department of Clinical Pathology, Faculty of Medicine, Tanta University, Egypt.
*Author to whom correspondence should be addressed.
Abstract
Background: Thrombosis is a major disorder with serious complications. The JAK2V617F mutation results in constitutive phosphorylation of JAK2 and activation of the cellular proliferation cascade.
The present study aimed to clarify the prevalence of JAK2V617F mutation in patients with thrombosis.
Subjects and Methods: This case-control study was conducted on 60 subjects subdivided into 2 groups: 30 healthy subjects as a control group (Group I) and 30 patients diagnosed with thrombosis (Group II). All subjects were subjected to full history taking, and clinical examination and investigated for Molecular detection of JAK2V617F mutation, FV (Factor V Leiden) – PTH (Prothrombin), and MTHFR (Methylene tetrahydro-folate reductase).
Results: There was a statistically significant difference among the studied groups as regards the JAK2V617F mutation (P value < 0.05, odds ratio = 41.216, 95% C.I. 95% = 2.302 - 738.034, relative risk = 25, 95% C.I. 95% = 1.547– 404.012). This mutation was more significantly associated with venous thrombosis than arterial thrombosis (P = < 0.05).
Conclusion: This study showed a significant association between JAK2V617F mutation and thrombosis with more significant evidence in the venous than the arterial thrombosis.
Keywords: JAK2 V617F, mutation, thrombosis