Haematologica 2004;89: supplement no. 8 - Supplements ...

158PostersPO-126MATERNAL-FETAL THROMBOPHILIC MUTANTS OBSERVATIONET RATIOLarciprete G,*° Angelucci PA, # Di Pierro G, §Stroppolo A, § Ameglio F, # Barbati G,* Arduini D,° §Cirese E #*AFaR, Associazione Fatebenefratelli per la Ricerca,Isola Tiberina, Rome; °Dottorato di ricerca in MedicinaPrenatale, § Università Tor Vergata, Ginecologia edOstetricia, Rome; # Ospedale Fatebenefratelli IsolaTiberina, Rome, ItalyObjectives. Aim of this study was to verify if anythrombophilic mutants could correlate with adversepregnancy outcomes. Materials and methods. 65 pregnants,matched for age (figure 1), were enrolled in 5pathology groups. The 1st helded 15 patients withthrombotic-hemorragic disorders of term pregnancyand puerperium. The 2 nd group of 16 patients compliedof hypertensive disorders as like preclampsia/eclampsia,PIH syndrome, DIC and HELLP syndrome. The 3 rdgroup had 3 pregnants with abruptio placentae. The 4 thgroup enrolled 8 patients with the US diagnosis ofIUGR. The last group was the control group, made of23 normal pregnants. MTHFR mutants C677T and 1298were evaluated along with Factor V and II mutants, bymeans of gene amplification techniques. The resistanceto the activated C protein was evaluated too. Results.The analysis of the carachteristics of the study populationsshowed a normal distribution of maternal ageand of the birthweights, (Figure 1).Figure 1. Characteristics of studied population.The categorial regression analysis underlined thatthe APCR occurrance was linked with the fetal IUGRwherever the occurrance of eterozygous mutantsMTHFR 1298 is deeply linked with a reduction in DICand abruptio placentae (Table 1).Standardized coefficientBeta Standard Error DF F Sig.APCR 0.478 0.200 1 5.585 0.022Factor V Leiden +/- -0.386 0.201 1 3.690 0.061MTHFR 1298 +/- -0.490 0.119 1 17.042 0.000Even the eterozygous factor V mutants showed thesame behaviour of the APCR, but it might be due toa strong multicollinearity effect. Discussion. We donot find any correlation between MTHFR mutantsand the IUGR, and we do find it when looking to theAPCR. It looks as not only one specific trombophilictract but a set of genes could be avaraged in determininga microvascular damage at the level of placentalvessels. The new finding is the interestingsafeting effect of the 1298 MTHFR gene. It seems tobe correlated to a decreasing rate of abruptio placentae,may be trought a faster homocysteine degradation.PO-127PREDISPOSING FACTORS IN PATIENTS WITH EARLY-ONSETCEREBRAL VEIN THROMBOSISTufano A, De Simone C, Coppola A,Macarone Palmieri N, Varricchione N,Lombardini D, Cirillo F, Cerbone AMReference Regional Centre for Coagulation Disease,Dep. of Clinical and Experimental Medicine,"Federico II" University of Naples, ItalyWe have screened the pro-thrombotic mutationsG20210A of the prothrombin (FII) gene, the Factor VLeiden mutation, the 677TT of the methylenetetrahydrofolatereductase (MTHFR) gene, and some transientfactors predisposing to thrombophilia (fastingtotal plasma homocysteine levels, oral contraceptiveuse, pregnancy/puerperium) in 20 consecutivepatients (8 men and 12 women; 34.45±12.44 yrs old)referred to our Centre because of a recently documented(CT and/or MRI) cerebral vein thrombosis(CVT). As many as 328 age- and sex-matched apparentlyhealthy subjects (133 men and 195 women;mean age 36.57±9.76 years), from the same ethnicbackground served as controls. Four out of the 20 CVThaematologica vol. 89(suppl. n. 8):september 2004