Permanent Gene Change or Mutation
Genetic mutation isn’t always a bad thing. Like any other change, this change in the gene’s DNA sequence allows the body to produce something different. It’s pretty valuable for human evolution, but in some cases, such a permanent change to that gene’s DNA sequence may result in unfavorable changes to the body, which is what happens with hemophiliacs.
For hemophiliacs, permanent gene change or mutation occurs in the F8, F9, and F11 genes. These affect how the genes typically work, resulting in changes in how they produce the proteins in the blood plasma. For example, mutations of the F8 gene usually result in clotting factor VIII’s absence, deficiency, or inactivity. F9 genetic mutation causes the Christmas factor’s lack, deficiency, or inactivity. In contrast, changes in the DNA sequence affecting the F11 gene may cause Rosenthal syndrome due to low levels of the clotting factor XI (FXI). Whichever gene mutates, the result remains the same — a high incidence or chance of being afflicted with hemophilia.
