What happens to the DNA that results Hemophilia A?

Answer 1

There are several different mutations that can cause hemophilia and there is no typical answer to this question. There are different segments of code on the X chromosome that is responsible for enabling production of Factors VIII & IX. A mutation anywhere within these areas can be responsible for hemophilia. The type of mutation as well as the location of the mutation in that code can influence the severity of hemophilia as well.

Lets look at a reversal mutation that results in the creation of a stop codon (this type of mutation is often called a nonsense mutation) early on in the code sequence. The stop codon tells the machinery to stop production of the factor protein molecule at that point. In this case, the molecule would never actually be made.

If we look instead at a point mutation resulting in simply an incorrect amino acid in that location (often called a missense mutation) half way through the code sequence, results can vary dramatically. The factor molecule will be made incorrectly, either not functioning for its purpose at all or simply doing a less than efficient job.

I hope that helps some.

Answer 2

In Hemophilia A, a genetic mutation affects the F8 gene, which provides instructions for making a protein called factor VIII. This mutation leads to a deficiency in factor VIII, a critical blood-clotting protein, causing prolonged bleeding and clotting issues. The DNA in individuals with Hemophilia A carries this mutation, affecting the production and function of factor VIII.