ABSTRACT
Hemophilia is the most common disorder of deficiencies in thrombotic factors. In most patients, severities of symptoms are in proportion of the seriousness of deficiency in the thrombotic factors. But in some patients with severe hemophilia, having less than 1% in factor level; the clinical symptoms are lower and slighter than the other hemophilic patients. Even in some cases, thrombotic events in the severe hemophilic patients have been accrued. The underlying causes of these findings are unknown. The aims of this study were to determine the role of some factors and also the type of genetic mutation of these factors in the rate and severity of bleeding and also the symptoms of the severe hemophilic patients. Sixty hemophilia A patients [FVIII<1%] with having records in Hemophilic Patients Center were divided on the basis of the received factor rate items per year, bleeding score, orthopedic score and radiologic score, in three groups with mild, moderate and sever clinical presentations [each group with 20 patients]. And then the mutation tests in the gene of Leiden V factor, PG20210A, MTHFR, level of thrombotic factors [II, V, VII, VIII, IX, X, XI, XII, XIII, and Fibrinogen], Protein C, S, Antithrombine III, Phospholipid Ab and Hemosisteine and number of platelets were performed. Data using the x2, Fischer, ANOVA and Tukey test and SPSS-14 were analyzed. Of the studied factors, the differences among 3 groups from view point of daily activity [P<0.002], antithrombine III [P<0.013], number of platelets [P<0.007], protein C [P<0.013] and level of factor XII [P<0.01] was significant. No significant differences were found in three groups in other tested factors. In this study, there were significant differences only in the daily activity, antithrombine III, number of platelets, protein C and level of factor XII. Thus, further studies are required to determine the role of other factors that may contribute to differences in the clinical presentations of the severe hemophilic patients