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Unlabelled: Factor V Leiden and G20210A mutation of the prothrombin gene have been described as risk factors in thrombophilic pathologies. Our objective has been to know the prevalence of these two mutations in a group of patients with thrombophilic pathology and to compare it with its prevalence in a control group of Spanish population.

Patients and methods: 64 patients were divided in two groups. First, 39 patients with deep venous thrombosis (DVT): 24 with an unique episode of DVT; 11 with more than one episode; 3 with DVT and pulmonary thromboembolism, and one with DVT and more than one episode of cerebral thrombosis. Second, 25 patients with other pathologies, such as pulmonary thromboembolism (9 patients), acute cerebrovascular accident (10 patients) and 6 who came to our Department because there were some carrier in their families. The 20210A allele was analyzed in 37 of the 64 patients. Some of the 64 patients had haematological determinations of the activated protein C resistance (APC resistance). As well, 103 unrelated subjects with unknown thrombotic pathologies were analyzed.

Results: We have found a prevalence of factor V Leiden in the group of patients of 14.1% (9 carriers in 64 patients, all of them in the first group of 39 patients with DVT) versus 1% in the control group (1 carrier in 103 controls). On the other hand, the difference between the prevalence of the 20210A allele was not statistically significant between the group of patients and the control group (2.7% vs 2.9%). In 75% of the patients no haematological results of APC resistance were obtained, generally because they were with anticoagulant treatment, and in 11.1% of the carriers the result of the determination was considered as ambiguous or false negative.

Conclusion: Factor V Leiden is well established as risk factor in the thrombophilic pathology, but more studies are needed to know the meaning of the G20210A mutation of the prothrombin gene.

Purpose: To assess the effectiveness of the transfusion network in Asturias regarding the autosufficiency in the production of haemoderivatives and their usage, as well as the components of the transfusion procedure in the period 1990-1995.

Material and methods: The procedure data and the results of donation, production and management and transfusion of blood components were analysed in a retrospective fashion.

Results: The overall production of haemoderivatives in the years analysed, 1990 and 1995, was, respectively, 55.8% and 64% of the overall usage. These figures correspond to 113% and 138% when applied to blood components for transfusion, and 15.9% and 27% with regard to plasma derivatives. On the other hand, it was estimated that 113% of the necessary haemoderivatives were transfused, respectively, in 1990 and 1995, corresponding to 121% and 112% for blood components, and 108% and 149%, respectively, for plasma derivatives.

Conclusion: The Consultive Committee of the Community Blood Centres must establish a quality assurance programme for blood transfusion in order to monitor all the different steps of the transfusion procedure and to evaluate the accomplishment of the legal norms tending to achieve auto-sufficiency in blood derivatives.

Purpose: Various genetic disorders interact with environmental factors to cause thrombotic diseases. Recently, a G to A transition at nucleotide 20210 in the prothrombin gene, has been described in association with venous thromboembolism, in Dutch population. Currently, several reports want to know the frequence of this mutation in other ethnic groups and populations. The aim of this work was to assess the prevalence rates of prothrombin mutation in both, thrombotic and healthy Spanish populations, and to estimate the associated relative risks. We described the clinical features in our series of thrombotic carriers and moreover, we compared a routine clotting test versus DNA analysis in the diagnosis of this anomaly.

Population, material and methods: The design was a non-matched case-control study. The involved populations were: 187 patients of venous thromboembolic diseases and 200 healthy controls. Patients and controls were genotyped and both, carriers and non-carrier patients, were analyzed by a routine prothrombin clotting assay, to determine the sensibility and specificity and optimal cut off level of the test.

Results: The 20210 A allele was identified in 17 patients (9.1%) and in 7 controls (3.5%), with a 2.76-fold increased risk (OR 2.76, 95% CI = 1.12-6.81), in carriers. One patient and none of the controls were homozygous. The clinical characteristics (first manifestation age or thrombotic recurrence) are similar in both, carriers and non-carriers, patient groups. The prothrombin level by a routine coagulometric method was 1.31 +/- 0.14 U/ml (95% CI = 1.24-1.38) for the 20210 A carriers, whereas for the non carrier-patients was significantly lower, 1.06 (95% CI = 1.03-1.08) (p < 0.00001). With a cut off level of 1.25 U/ml, 12/16 (75%) carriers and 14/132 (10.6%) non-carriers were positive. Therefore, the sensibility was 75% and the specificity 89.4%. With a cut off level of 1.40 U/ml the diagnostic efficiency was even worse.

Conclusions: 3.5% of healthy subjects and 9.1% of thromboembolic patients carried this prothrombin mutation with a relative risk of 2.76 (95% CI = 1.12-6.81). The relevant clinical features are similar to the rest of the series. The mean prothrombin level was higher (1.31 U/ml) than in the normal patients (1.06 U/ml), but the clotting test seems inappropriate for a diagnostic purpose.