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.

[Acquired haemophilia in a patient with systemic lupus erythematosus]. / Hémophilie acquise au cours d'un lupus érythémateux systémique.

INTRODUCTION: In patients with lupus, the most common acquired circulating anticoagulant is antiprothrombinase which is responsible for thrombosis. The presence of antibodies directed against factor VIII is rarely found in systemic lupus erythematosus. A case of acquired haemophilia in a patient with lupus is reported. CASE REPORT: A 30 year-old woman with systemic lupus erythematosus developed a right coxalgia and ecchymotic skin lesions which were prominent on the right arm and forearm. Laboratory values were as follows: positive antinuclear antibodies > 1: 2 560, anti-DNA antibodies (300 IU/ml), prolonged activated partial thromboplastin time, reduced factor VIII activity (1 p. 100) and the presence of antibodies against factor VIII. Magnetic nuclear resonance of the right hip confirmed the presence of an intramuscular hematoma. The patient was initially treated with intravenous pulse and oral corticosteroids, intravenous immunoglobulins and intravenous cyclophosphamide. Clinical and biological improvement was promptly obtained. DISCUSSION: In our patient with systemic lupus erythematosus, bleeding revealed acquired haemophilia with antibodies against factor VIII. It should be pointed out that the association between lupus and haemophilia is uncommon and that at present no standardized treatment can be recommended.

[Variability of INR due to thromboplastin. Comparison of two recombinant thromboplastins and one rabbit thromboplastin]. / Variabilité de l'INR en fonction du réactif thromboplastine utilisé. Comparaison de deux thromboplastines recombinantes et d'une thromboplastine de lapin.

We have compared the INR obtained with three different thromboplastin reagents: one rabbit and two recombinant tissue factor thromboplastins using the same coagulometer. A preliminary study has shown that freezing of plasmas at -80 degrees centigrade causes a 6% increase in INR. We did this experiment on 57 plasma samples from patients receiving oral anticoagulant therapy, none of them receiving heparin. Results show that global prothrombin activity expressed in percentage is significantly lower with recombinant tissue factors than with rabbit thromboplastin. ISI of one of the two recombinant thromboplastins did not seem to be appropriate to our coagulometer highpointing the variability of INR due to the coagulation analyzer. This underlines the necessity for each laboratory to assess the ISI value provided by the manufacturer according to its working conditions. This study suggests that the results of prothrombin time should be exclusively expressed in INR for patients treated with oral anticoagulants.