This study investigates the penetration and genetic expression of factor VIII of hemophilia to individuals who are in the fourth degree of kinship from the mother’s line. So it comes to two hemophiliac brothers and a hemophiliac cousin whose mothers are sisters but who are married in different families. For these cases of hemophiliacs were performed laboratory, biochemical and genetic analyzes to observe the level of penetration and expression of factor VIII. We will present with the help of the genetic tree the origins or gene genealogies of the gene for this disease. Based on biochemical and genetic analysis using PCR, we will present factor I, IX, XI, aTTP, vWF-Factor Von Willebrandov, locus Xq28, ccddee genotype, fibrinogen, blood group, rhesus factor in hemophiliacs involved in this study. We will likewise compare the laboratory analysis of individuals and look at the similarities or differences in the values gained. Based on these results, doctors can determine doses about these cases with hemophilia. In this case it is suggested that the heparin dose should be in correlation with the aPTT activity to avoid thrombin.
Kamberi, Naser and Rizani, Hyzer, "GENETIC LEVEL OF PENETRATION AND EXPRESSIVITY IN FACTORS FOR TYPE OF HEMOPHILIA, HEMOGLOBIN, aPTT AND GENOTYPE" (2019). Conference Presentations. 1.