Haemophilia is a genetic disease with an X-linked recessive inheritance. It is a bleeding disorder that affects mainly males. There are two types of haemophilia, depending on the affected gene – haemophilia A (F8 gene) and haemophilia B (F9 gene). According to the coagulation levels of factor VIII/IX, haemophilia can be mild (5–40%), moderate (1–5%), or severe (less than 1%).
The aim of this study is to perform genetic profiling of Bulgarian patients diagnosed with haemophilia A and B. Presented are three clinical cases of haemophilia A and one of haemophilia B.
In total, 75 individuals from 36 families were examined for haemophilia A and for haemophilia B – 11 individuals from 6 families. Genomic DNA was isolated, and 26 exons from F8 gene and 8 exons fromF9gene were sequenced with Sanger sequencing.
The four presented clinical cases are of interest due to the importance of the detected mutations for the purposes of prenatal diagnostics and for future gene therapy of the affected patients.
Elucidating haemophilia at the genetic level is of utmost importance for the implementation of new therapeutic approaches and the postnatal care of newborns with inherited genetic defects, as well as for the purposes of prenatal diagnostics. Read the full article here.