Candidate markers for thromboembolic complications in adult Egyptian patients with β-thalassemia

Background Increased risk for thromboembolic complications in patients with thalassemia major has been attributed to the chronic hypercoagulable state. However, the underlying mechanisms are multifactorial. Objectives To investigate the candidate markers of possible tendency to thrombophilia in adult patients with thalassemia major. Methods Genetic polymorphisms of prothrombotic factors have been analyzed in 30 splenectomized patients (group I) and 30 nonsplenectomized patients (group II) as well as 30 age matched and sex matched healthy controls. In addition to routine hematological and coagulation parameters, estimation of protein C and protein S free antigen, antithrombin III activity, factor VIII, and factor IX levels was done. Plasma soluble endothelial protein C receptor levels were measured by ELISA, and factor V Leiden1691G-A, factor II polymorphism (G20210A), and methylenetetrahydrofolate reductase mutation (C677T) were detected by real-time PCR. Results A significant increase of soluble endothelial protein C receptor was observed in patients (in group I more than group II), whereas protein C and protein S were significantly reduced together with more frequent congenital thrombophilic mutations. Conclusion With the prolonged life expectancy of patients with β-thalassemia, more caution should be considered toward thromboembolic complications. Thus, after the first thrombotic event or even when they are exposed to thrombotic risk factors, they should be investigated for congenital thrombophilia, and prophylactic antithrombotic agents may be recommended.