Case ReportsRecurrent thromboembolism in a patient with β-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutationsKahn, J.-E.; Veyssier-Belot, C.; Renier, J.-L.; de Mazancourt, P.; Peltier, J.-Y.; de Raucourt, E.Author Information J.-E. Kahn and C. Veyssier-Belot are with the Department of Internal Medicine, J.-L. Renier, J.-Y. Peltier and E. de Raucourt are with the Department of Haematology, Poissy-Saint-Germain-en-Laye Hospital, Saint Germain-en-Laye, France; and P. de Mazancourt is with the Department of Biochemistry, Raymond Poincaré Hospital, France. (Received 8 November 2001; revised 19 February 2002; accepted 20 February 2002) Address correspondence to Emmanuelle de Raucourt, Department of Haematology, Poissy-Saint-Germain-en-Laye Hospital, 20 rue Armagis, 78105 Saint Germain-en-Laye, France. Tel: (+33) 1 39 27 42 82; fax: (+33) 1 39 27 42 86; e-mail: [email protected] Blood Coagulation & Fibrinolysis: July 2002 - Volume 13 - Issue 5 - p 461-463 Buy Abstract Double heterozygosity for factor V R506Q and prothrombin G20210A mutations was identified in a 24-year-old man with β-thalassemia major. The patient experienced a first thrombotic event at the age of 19 years and three recurrent thromboses in a short time interval, the third occurring while the patient was receiving long-term anticoagulant treatment. This case suggests that patients with major thalassemia and congenital thrombophilic mutations need intensive and long-lasting anticoagulant treatment. Thus, even if thrombotic events could be explained by a hypercoagulable state observed in patients with major thalassemia, after a first thrombotic event has occurred these patients should be screened for acquired and congenital thrombophilia. © 2002 Lippincott Williams & Wilkins, Inc.