Article Type

Original Study


Objective The aim of this study was to evaluate the association of janus kinase 2 (JAK2) V617F mutation with primary Budd–Chiari syndrome (BCS) in Egyptian patients. Background BCS is a rare disorder caused by thrombosis of the hepatic veins or the terminal portion of the inferior vena cava. JAK2 V617F mutation is an objective tool for diagnosing BCS patients. Patients and methods This study was conducted on 50 patients: 35 patients with primary BCS, and 15 age-matched and sex-matched healthy individuals who were taken as the control group. Patient and control groups were subjected to full history taking, general clinical examination, and laboratory investigations including measurement of complete blood count; liver function tests – serum aspartate aminotransferase and serum alanine aminotransferase (ALT), total and direct bilirubin, serum albumin, prothrombin time, partial thromboplastin time, and international normalized ratio; and renal function tests – serum blood urea and serum creatinine. Genotyping of JAK2 mutation was performed by PCR-RFLP method to diagnose the underlying etiology of BCS. Results There was a statistically significant difference between patients and controls regarding hemoglobin, platelets, ALT, aspartate aminotransferase, direct and total bilirubin, albumin, prothrombin time, partial thromboplastin time, international normalized ratio, urea, and creatinine. There was no statistically significant difference between studied patients and control groups regarding JAK2 mutations. Mutant form of JAK2 had significantly increased platelets count and ALT serum levels than wild form, whereas there was no significant difference regarding other laboratory parameters. Conclusion JAK2 V617F mutation was not significantly different between patients and controls.