1

Mutation Story: Hemophilia

The Life of a Genetic Mutation

Part 1.

I was once normal, whatever that means. We all had our own jobs, our own bases that made up who we are. I guess somewhere along the way, things got a little jumbled up and now I am a gene that makes up hemophilia.

Hemophilia is a bleeding disorder that changes the clotting rate of blood, slowing it down so that my host can bleed much longer that in someone without me. The bleeding happens perhaps after a small cut, scrape, or anything that can draw blood. When my host gets injured and bleeds, it’s really hard for the blood to stop flowing.

There are two major types of hemophilia, A and B. Although the two are similar in signs and symptoms, they are caused by mutations in different genes. Me? I am type A, more common than type B. An alteration in the F8 gene is responsible for my type (A), while mutating the F9 gene causes type B. Those specific genes tell me and my sisters how to make a coagulation factor protein. It helps clot blood after an injury and prevents blood loss to a host. Because I am mutated, my coagulation factor proteins are altered or missing and I can’t really clot blood properly. Both types A and B appear more in males than in females. Me, I am in 1 in 4,000 to 1 in 5,000 males. My friend, type B is a little more reclusive and appears in 1 in 20,000 males worldwide. I’m also not a good thing for my host and I realize that. Some of my past hosts have died due to complications from the inability to clot blood, however doctors are trying gene therapy to help cure my host; even if it means switching me out.

Part 2.

I tried to ask as many questions related to those given on the sheet and elaborated on the concepts and information. Some include “What gene is mutated?” and “Is there a cure/cure in progress for this disease?” I used Google and the Genetics Home Reference website as research articles, and I just asked questions first then find the answers after. Here is one of the links https://ghr.nlm.nih.gov/condition/hemophilia that I used as a citation! The whole project ran pretty smoothly, and I found it interesting to do the work from a mutated gene’s perspective. I could been more detailed, but I feel that this was concise enough that it got the point across without leaving out anything important. Too many details would’ve made it crowded I thought as well.