Hemophilia story

I am a mutated gene, more specifically I am a mutation of the F8 gene causing hemophilia type A and I have mutated the genes of Megan. The F8 gene I have mutated is responsible for making a protein called coagulation (the ability to clot blood) factor VIII. Coagulation factors work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss. Unfortunately for Megan she has to live with this disease that only affects 1 in 4,000 people, or rather children, because this type of mutation is also hereditary.

hemophilia can be fatal if Megan doesn’t take the appropriate steps in trying to prevent the results of my mutation, luckily for her there happen to be fairly successful treatment options to treat her disease. People like Megan who have mild cases of hemophilia A are sometimes treated with the drug Desmopressin, also known as DDAVP. This drug stimulates the release of more clotting factor by the body. It is administered either slowly through the intravenous route (IV) or occasionally, in nasal spray form.

hemophilia can affect anyone, it is a hereditary disease, that means that it is something you inherit from your parents. Boys are born with one X and one Y chromosome while girls are born with two X chromosomes. Since hemophilia is carried by the X chromosome that means that girls are twice as likely than boys to acquire it. A boy who has a hemophilia gene on his X chromosome will have hemophilia. When a girl like Megan has a hemophilia gene on only one of her X chromosomes, she is a “hemophilia carrier” that means she can pass it on to any children she might have. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia.

in creating this story i tried to answer questions like what causes hemophilia, more specifically, hemophilia type A. this was not a hard thing to do as hemophilia is one of the more known gene mutations. To find information on this gene mutation I consulted websites like http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia
As well as http://www.mayoclinic.org I also looked into some textbooks and reference books to complete notes on the subject. The challenges that I had in creating this project were minor, for example finding photos that would further explain how this gene mutation is inherited. I enjoyed creating this story very much.