Blood samples were drawn and analysed in the Society reference laboratory for the following screening tests: prothrombin time (PT), APTT and coagulation factor assays. Inhibitor detection and VWF RiCof were performed depending on the result of the screening tests. HBs Ag, anti-HCV, anti-HIV 1 + 2 and syphilis tests were also performed to detect transfusion transmitted agents (TTA). Diagnosis of the bleeding disorder type was confirmed for 760 of these cases. Among the 760 confirmed patients, 82.5% had haemophilia. Among these, 89.6%were haemophilia

see more A; 10.4% were haemophilia B; 8.3% had VWD; 9.2% had other rare bleeding disorders as follows: 1.2% FVII deficiency, 0.7% FV deficiency, 1.8% F1 deficiency, 0.4% FX deficiency, 1.4% platelets dysfunctions (mainly Glanzmann Thrombasthenia) and 3.7% had combined FVIII and FV deficiency. Eighty (21.3%) cases of 375 screened for transfusion transmitted agents were positive for at least one infection: 0.5% were HBsAg positive, 19.7% were anti-HCV positive, 0.8% had combined HBsAg and anti-HCV positivity and 0.3% was anti-Syphilis positive. All patients were negative for HIV1 and HIV2. The preliminary data presented here follow known data on haemophilia A, haemophilia B and VWD disease. This registry will certainly help in improving haemophilia care in Syria. “
“Summary. 

check details The possibility of alloimmunization in patients receiving protein replacement therapy depends on (at least) three risk factors, which are necessary concomitantly

but insufficient not alone. The first is the degree of structural difference between the therapeutic protein and the patient’s own endogenous protein, if expressed. Such differences depend on the nature of the disease mutation and the pre-mutation endogenous protein structure as well as on post-translational changes and sequence-engineered alterations in the therapeutic protein. Genetic variations in the recipients’ immune systems comprise the second set of risk determinants for deleterious immune responses. For example, the limited repertoire of MHC class II isomers encoded by a given person’s collection of HLA genes may or may not be able to present a ‘foreign’ peptide(s) produced from the therapeutic protein – following its internalization and proteolytic processing – on the surface of their antigen-presenting cells (APCs). The third (and least characterized) variable is the presence or absence of immunologic ‘danger signals’ during the display of foreign-peptide/MHC-complexes on APCs. A choice between existing therapeutic products or the manufacture of new proteins, which may be less immunogenic in some patients or patient populations, may require prior definition of the first two of these variables. This leads then to the possibility of developing personalized therapies for disorders due to genetic deficiencies in endogenous proteins, such as haemophilia A and B.