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Blood Coagul Fibrinolysis. 2002 Jul;13(5):461-3.

Recurrent thromboembolism in a patient with beta-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations.

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Department of Internal Medicine, Poissy-Saint-Germain-en-Laye Hospital, Saint Germain-en-Laye, France.


Double heterozygosity for factor V R506Q and prothrombin G20210A mutations was identified in a 24-year-old man with beta-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.

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