A Study of Hematological and Hepatic Changes in Polycythemia Vera

Abstract

Polycythemia vera (PV) is a type of myeloproliferative neoplasm marked by the overproduction of red blood cells and strongly associated with mutations in the JAK2 gene. In this study, we examined and compared clinical, hematological, and biochemical features of individuals with PV and healthy control subjects to better understand the disease’s distinguishing characteristics. A total of 227 patients with confirmed PV and 32 healthy individuals participated in the study. Data collected included demographic information, JAK2 V617F mutation status, and essential blood parameters such as red blood cell (RBC) count, hemoglobin (Hb) concentration, white blood cell (WBC) count, and platelet (PLT) count. In addition, liver function tests—including alkaline phosphatase (ALP) and aspartate aminotransferase (AST)—as well as erythropoietin (EPO) levels were evaluated to explore broader physiological effects. The JAK2 V617F mutation was found in 94% of PV patients (p < 0.0001), confirming its central role in disease pathogenesis. Compared to the healthy controls, PV patients showed significantly higher levels of hemoglobin, WBCs, and RBCs (p < 0.001), along with notably reduced levels of erythropoietin (p = 0.0002). We also found that ALP levels declined with age (p = 0.022). Clinically, splenomegaly was present in 69.6% of patients, and bone marrow panmyelosis was observed in 96%. No meaningful associations were identified between liver enzyme levels and gender.

In conclusion, PV is characterized by increased blood cell production, a high prevalence of JAK2 mutations, and suppressed erythropoietin levels. The age-related changes in ALP and limited liver involvement provide further insight into the disease’s progression. These findings emphasize the importance of molecular testing and regular blood monitoring to support accurate diagnosis and guide effective clinical management.