Association of prothrombin G20210 gene polymorphism and risk of thrombosis in β-thalassemic children In Egypt

Abstract

Background: Hypercoagulable condition is linked to an increased risk of thromboembolic events in thalassemic children. There are multiple factors that contribute to hypercoagulable state in thalassemia patients.

Methods: This is a case control study. A total of 40 thalassemic patients and 40 healthy controls were included in the study. All subjects were tested for prothrombin gene polymorphism by by restriction fragment length polymerase chain reaction (RFLP PCR) and evaluated for other clinical and laboratory risk factors for TE including; age, sex, consanguinity, family history of TE, clinical presentation, level of serum protein C(PC), serum protein S(PS) and D-Dimer.

Results: The thalassemic group show significant decrease in PS, PC and D-dimer, compared to control group. The frequency distribution of GA genotype of prothrombin gene was 25% in thalassemic group while 15% in control. There was non-significant difference between studied groups regarding prothrombin gene polymorphism but there was significant difference regarding A allele. There were non-significant relation between prothrombin gene polymorphism and either gender, age , family history of TE

Conclusions: The natural coagulation inhibitors PC and PS were significantly reduced in patients with β-thalassemia major and were thus important risk factors for the hypercoagulable state, but prothrombin polymorphism do not seem to be significant risk factors for thromboembolic events.There was no significant difference in prothrombin genotype distrubuation between thalassemic children and control .Presence of A allele may consider additional risk of thrombosis in children with thalathemia .