Janus Kinase2 V617F Mutation in Sudanese Patients with Essential Thrombocythemia

Abstract

Background: Janus Kinase2 (JAK2) is a cytoplasm tyrosine kinase involved in transduction of signal from growth factor receptor on auto phosphorylation following activation via ligand binding, JAK2 recruit STAT molecules which are then phosphorylated and translocate to the nucleus to act as transcription factor. Mutations of JAK2 gene have reported to be associated with all myeloproliferative disorders with variable frequency.

Objective : This study aimed to determine the frequency of JAK2 V617F mutation in Sudanese patients with Essential Thrombocythemia (ET) and investigate its correlation with platelet count, age of incidence, and patients' demographic data.

Material and Methods: A total of 50 patients with ET were enrolled in this study. Three milliliter (ml) of venous blood was collected from each subject and DNA was extracted from peripheral leukocytes by salting out method. JAK2 V617F mutation was detected by allele –specific competitive blocker polymerase chain reaction. Platelet was counted using automated hematology analyzer.

Results: A total of 50 Sudanese patients with essential thrombocythemia were enrolled in this study; 23(46%) of them were males and 27(54%) were females; their age range from 18 to 82 years. The results showed that 31(62%) of patients were positive for JAK2 V617F mutation. The platelet count was found higher in patients with the mutation than those without the mutation but the different was not statistically significant ((Mean±SD: 1071.6±543.5X103/μl and 956.3±508.9 X103/μl respectively, P.value: 0.85)). Also no statistically significant difference was found in mean age of incidence in patients with the mutation compared to those without the mutation (Mean±SD: 53.8±15.7 & 48.8±13.8 years respectively, P. value: 0.67).

Conclusion: About two third of the Sudanese patients with ET were found to have JAK2 V617F mutation. Presence of the mutation has no significant effect on platelet count or age of incidence.