Abstract
Objectives Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms characterized by a sustained elevation of platelet numbers with a tendency for thrombosis and hemorrhage. The aim of this work is to establish the relation between calreticulin, factor V Leiden, prothrombin G20210A, and MTHFR mutations in ET patients and the thrombotic risk of these patients. Methods This study was carried out on 120 ET patients and 40 apparently healthy individuals as a control group. Results There were increases in WBCs, PLT counts, PT, fibrinogen concentration factor V Leiden, and MTHFR mutation in ET patients as compared to the control group (P < 0.05). Also, there were increases in WBCs, PLT counts, and hematocrit value in thrombosed ET patients as compared to the nonthrombosed ones (P < 0.05). On the contrary, there was no significantly statistical difference in ET patients with JAK2 V617F positive mutation versus the JAK2 negative group (P > 0.05) and in patients with cardiovascular risk factors versus patients with noncardiovascular risk factors (P > 0.05). ET patients with factor V Leiden, prothrombin gene, and CALR mutations were more prone to thrombosis (odds ratio 5.6, 5.7 and 4.7, respectively). On the contrary, JAk2V 617F and MTHFR mutations have no effect on the thrombotic state of those patients. Conclusion There is a significant increase risk of thrombosis in ET patients with CALR mutation, thrombophilic mutations, as well as factor V Leiden and prothrombin gene mutation with a risk of developing leukemic transformation.
Highlights
Essential thrombocythemia (ET) is one of the “myeloproliferative neoplasms” (MPNs) characterized by clonal overproduction of one or more blood cell lines
According to the presence of JAK2 mutation, the patients divided into 78 JAK2 positive patients and 42 JAK2 negative patients; according to the presence of CALR mutation, the patients divided into 14 CALR positive patients and 106 CALR negative patients, and according to CVS risk factors, the patients were divided into 66 high-risk patients and 54 without risk factors. e patients and the control group were subjected to history taking, clinical examination, complete blood count (CBC), bleeding time, prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen concentration using the coagulation technique, Va1617Phe JAK-2 mutation, calreticulin mutation, and the polymorphism of factor V Leiden, prothrombin G20210A, and Methylene tetrahydrofolate reductase (MTHFR) mutation gens
With respect to the laboratory data, total leucocyte counts, prothrombin time, and fibrinogen concentration were significantly increased in ET patients compared to the control group (P < 0.005). ese coincide with those reported by Trelinski et al
Summary
Essential thrombocythemia (ET) is one of the “myeloproliferative neoplasms” (MPNs) characterized by clonal overproduction of one or more blood cell lines. ET is characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage [1]. E most common molecular marker of these diseases is JAK2 V617F mutation present in 50–70% and calreticulin (CALR), a multifunctional calcium-binding protein, mutation present in 15–24% [1]. Rombophilia is common in ET patients which may be genetic or acquired. E pathogenesis of thrombosis in ET is complex and not yet fully understood [2]. Several defects have been described, including an autonomous production of platelets unregulated by the physiologic feedback mechanism to keep the count within the reference range [3]. Pearson [5] reported that platelet count per se does not correlate with thrombotic incidence
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