[20210G/A mutation of prothrombin gene in a patient with deep venous thrombosis ad pulmonary embolism without other risk factors of thrombosis]. / Mutación 20210G/A del gen de la protrombina en un paciente con trombosis venosa profunda y embolia pulmonar sin otros factores de riesgo trombótico.

A new genetic anomaly predisposing to venous thrombosis was described in 1996, namely the transition of guanine (G) to adenine (A) at position 20210 in the 3-untranslated region of the prothrombin gene. This mutation is associated with high levels of plasma prothrombin and increased risk of thrombotic events in the venous system. We report the case of a man who, lacking known risk factors for thrombosis, suffered a massive pulmonary embolism and deep venous thrombosis in both lower legs. Thrombophilic analysis confirmed that the patient and close relatives were carriers of the heterozygotic 20210G/A variant of the prothrombin gene. Two relatives with the genetic defect had also suffered some type of deep venous thrombosis.

[Molecular characterization of thalassemias in the Valencia community and its relationship with the hematological phenotype]. / Caracterización molecular de las talasemias en la Comunidad Valenciana y su relación con el fenotipo hematológico.

PURPOSE: The aim of the study is to present the first results of molecular characterization of thalassaemias in Valencian Community and their relationship with the haematological parameters. PATIENTS AND METHODS: The study includes 87 thalassemic patients: 30 alpha-thalassaemias, 40 beta-thalassaemias and 17 delta beta-thalassaemias. The molecular alterations were studied in white cell blood DNA, either following different PCR methods or by testing the digestion of the amplified PCR products with selective restriction enzymes. RESULTS: The molecular characterization of beta-thalassaemias was achieved in 94% of the subjects, being the transition C-->T in CD-39 the most frequent (44%) of the mutations studied. 94% of the delta beta-thalassaemias studied corresponded to the delta beta-Spanish type. All the alpha thalassaemias characterized (64%) corresponded to the -alpha 3.7 deletion. The reamining 36% were negative for the alpha 0 deletions --MED, --20.5, or the non deletional mutations Hph I and NocI. DISCUSSION: In the Valencian Community, like what has been described for the beta-thalassaemias in other Mediterranean regions of Spain (Barcelona, Granada and Mallorca), a high incidence in C-->T transition in CD-39 was observed, in contrast with central and south-western regions of Spain, where the G-->A IVS-I-1 is the most frequent mutation. Our study supports that the IVS-I-6 mutations is the one with lower repercussions on the haematological parameters. Our study confirms the Spanish type of delta beta-thalassaemia as the most frequent in the Valencian Community, and that the 3.7 kb alpha deletion is the most frequent mutation for the alpha-thalassaemia, although alpha thalassaemia is also the poorly characterized form of thalassaemia.

[Primary polycythaemia vera in the elderly]. / La policitemia vera en el anciano.

We present an 86-years-old woman's case with paralysis in her left hand of abrupt apparition, accompanied by arterial hypertension and dizziness. The investigation revealed erythrocytosis, leukocytosis, thrombocytosis, with normal arterial O2 saturation (O2 SAT), increased of his red cell volume and blood viscosity. The polycythaemia vera (PV) was diagnose and the paralysis disappeared, when 24 hours before a phlebotomy was practiced, and the function was recovered by the hand. We analysed the presents diagnostics criteria of the disease defined by Polycythaemia Vera Study Group (PVSG). The different treatments for PV are discussed; in addition to venesection, conventional treatment include chemotherapy with hydroxyurea and pipobroman, as well as the erythropheresis, -interferon and aspirin. All of the treatments are associated with complications; thrombotic in the case of phlebotomy; malignancies and gastrointestinal bleeding in the case of myelosuppressive treatments and aspirin. We think the optimal treatment for PV is a judicious combination of the available alternatives, depending on the phase of the disease, and the age of the patient.

[New markers of atherogenic risk: hemorrheological profile in children and adolescents with familial hypercholesterolemia]. / Neuvos marcadores de riesgo aterogénico: perfil hemorreológico en niños y adolescentes con hipercolesterolemia familiar.

OBJECTIVE: Recent studies in adults have shown that hemorrheological alterations are predictive of early cardiovascular disease, but it is unknown if they are related to hyperlipemia or are secondary to an established atherosclerotic process and if they appear during childhood. PATIENTS AND METHODS: Several rheological parameters have been studied in 36 patients with familial hypercholesterolemia (FH). These patients were between 2 and 16 years of age and 12 of them were being treated with cholestyramine. Thirty-five controls (CG) were individually matched for age and sex. RESULTS: The FH patients treated with cholestyramine did not show significant differences in any of the six rheological parameters that were studied when compared to the other patients. Therefore, the results of the FH group were analyzed as a whole when they were compared with the CG. The following significant differences were found: Index of erythrocyte aggregation at stasis 5.0 +/- 1.2 vs 3.6 +/- 1.0 (p < 0.001), index of erythrocyte aggregation at low rate of blood shears 8.1 +/- 1.7 vs 6.9 +/- 1.4 (p < 0.001) and plasma viscosity 1.19 +/- 0.11 vs 1.16 +/- 0.04 mPA/s (p < 0.01). There were no significant differences in the plasma fibrinogen nor in the blood viscosity at shear rats of 230/s and 23/s. Carotic echo-doppler was taken in the HF patients which was normal, indicative of the absence of atherosclerosis lesions in the fibrous plaque phase. CONCLUSIONS: These results indicate that there are hemorrheological alterations in absences of established atherosclerotic lesions, which are associated with hypercholesterolemia and that emerge in the pediatric population. Therefore, research in FH patients offers new data to evaluate the atherogenic risk and its complications.