OBJECTIVE

To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia (ET).

METHODS

The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed. According to driver mutation type, patients were divided into group, group and triple-negative group. The sex, age, cardiovascular risk factors, thrombosis, splenomegaly, routine blood test and coagulation status of patients in three groups were analyzed.

RESULTS

Among 69 ET patients, 46 cases were associated with mutation, 14 cases with mutation, 8 cases with triple-negative mutation, and one with gene mutation. There were no significant differences in age and sex among the three groups ( >0.05). The highest thrombotic rate was 26.09% (12/46) in group, then 12.5% (1/8) in triple-negative group, while no thrombotic events occurred in group. The incidence of splenomegaly was the highest in group (34.78%), while no splenomegaly occurred in triple-negative group. The white blood cell (WBC) count in group was (9.00±4.86)×10/L, which was significantly higher than (6.03±2.32)×10/L in group ( <0.05). The hemoglobin (Hb) and hematocrit (HCT) in group were (148.42±18.79) g/L and (0.44±0.06)%, respectively, which were both significantly higher than (131.00±15.17) g/L and (0.39±0.05)% in triple-negative group ( <0.05). The platelet (PLT) in group was (584.17±175.77)×10/L, which was significantly lower than (703.07±225.60)×10/L in group ( <0.05). The fibrinogen (Fg) in and triple-negative group were (2.64±0.69) g/L and (3.05±0.77) g/L, respectively, which were both significantly higher than (2.24±0.47) g/L in group ( <0.05, <0.01). The activated partial thromboplastin time (APTT) in triple-negative group was (28.61±1.99) s, which was significantly decreased compared with (31.45±3.35) s in group ( <0.05).

CONCLUSIONS

There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations. Among ET patients, mutation is most common. Compared with group, the thrombotic rate, WBC and Fg significantly increase in group, while PLT decrease. Compared with triple-negative group, the incidence of splenomegaly and HCT significantly increase. Compared with group, Fg significantly increases but APTT decreases in triple-negative group.