Abstract
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.
MeSH terms
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3' Untranslated Regions / genetics
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Activated Protein C Resistance / complications*
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Activated Protein C Resistance / genetics
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Adult
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Anticoagulants / therapeutic use
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Aspirin / therapeutic use
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Factor V / genetics*
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Genetic Predisposition to Disease
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Heparin, Low-Molecular-Weight / therapeutic use
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Heterozygote
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Humans
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Male
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Popliteal Vein
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Prothrombin / genetics*
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Pulmonary Embolism / drug therapy
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Pulmonary Embolism / etiology*
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Recurrence
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Saphenous Vein
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Splenectomy
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Thrombophilia / genetics*
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Thrombophlebitis / drug therapy
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Thrombophlebitis / etiology*
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beta-Thalassemia / complications*
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beta-Thalassemia / genetics
Substances
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3' Untranslated Regions
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Anticoagulants
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Heparin, Low-Molecular-Weight
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factor V Leiden
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Factor V
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Prothrombin
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Aspirin