Determination of some genes and some immune markers for patients with haemophilia

Hemophilia is a disease known for thousands of years. The earliest accounts of hemophilia are from the 2nd century AD and are described in the TALMUD (Jewish writings). The text reports the decision of the Patriarch Rabbi-Judah to exempt the third child from the same mother from circumcision, since his first two children died from bleeding after circumcision. Of the 35 cases studied, it was possible to determine the Ig subclass in 27 cases. Most cases were 25% positive simultaneously for IgG1 and IgG4 subclasses. The other 15.62% (n=5) cases were positive only for IgG1 class and 3 only for IgG4. As has already been shown in the literature, although 28.12% (n=9) of cases had some positivity for the IgG2 class, this occurred in association with IgG1 and/or IgG4. Analysis of the presence of intron 22 inversion and intron 1 inversion was positive in n=14 (43.75%) and n=5 (25.92%) patients with severe A hemophilia, respectively. A mutation in the F8 gene due to the presence of hemophilia A was detected in 56.2% (n=18) cases belonging to 26 families of patients with severe AD, INV-1 and INV-22 negative. Six STR markers (described previously) were investigated in a sample of 35 individuals in the Iraqi population, who were used as a control group and created a database to be compared with affected families. Among the 35 patients who participated, there were two pairs of siblings with only 35 families represented. Two patients whose mothers had already died but were forced carriers because they had daughters were accepted to join the patient family members group, helping to prove the effectiveness of the methodology. During the studies, it was observed that much more remains to be done to provide adequate follow-up to carriers, especially in identifying symptomatic carriers and providing genetic counseling. However, it is seen that much has been done to ensure early diagnosis and treatment of both affected and carriers by establishing a viable methodology to be applied routinely in the identification of carriers.