Recurrent thromboembolism in a patient with beta-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations.
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.
Department of Internal Medicine, Poissy-Saint-Germain-en-Laye Hospital, Saint Germain-en-Laye, France.
J-E
JE
Kahn
C
C
Veyssier-Belot
J-L
JL
Renier
P
P
de Mazancourt
J-Y
JY
Peltier
E
E
de Raucourt
D020413:3' Untranslated Regions / Q000235:genetics; D020016:Activated Protein C Resistance / Q000150:complications* / Q000235:genetics; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001241:Aspirin / Q000627:therapeutic use; D005165:Factor V / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006495:Heparin, Low-Molecular-Weight / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D008297:Male; D011152:Popliteal Vein; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000209:etiology*; D012008:Recurrence; D012501:Saphenous Vein; D013156:Splenectomy; D019851:Thrombophilia / Q000235:genetics*; D013924:Thrombophlebitis / Q000188:drug therapy / Q000209:etiology*; D017086:beta-Thalassemia / Q000150:complications* / Q000235:genetics
D020413:3' Untranslated Regions; D000925:Anticoagulants; D006495:Heparin, Low-Molecular-Weight; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D001241:Aspirin