THE LIFE OF A GENETIC MUTATION
Part 1
My name is Professor G. Dryden Webb and I am the gene responsible for producing coagulation Factor V111. Somehow I have become mutated therefore I am a gene mutation which resulted from changes in a few nucleotides. The mutation involves a gene that codes proteins which are essential in the blood clotting process. Hemophilia A is caused by a mutation in the gene for factor VIII, so there is a deficiency of this clotting factor. This gene mutation can be caused by substitutions (one base substituted for another), insertion (an extra base inserted), or deletion (the removal of one base). Because of my mutation I caused the disorder hemophilia in my host. There are three types of hemophilia which are known as A,B and C. I’m going to talk about type A which is the most common. Hemophilia A occurs once in every 5 to 10 000 male births. Man am I unique.
I am a germ mutation which has effects on reproduction. This makes me an inheritable gene. Therefore my story starts with my current host’s parents. I am a gene on the X chromosome and affect usually only males. My host’s mother is a carrier of hemophilia in one of her X chromosomes. Because the host’s mother has two X chromosomes she doesn’t get hemophilia. For my host’s father he is giving the baby boy a Y chromosome therefore the father cannot pass on hemophilia to his offspring. When Johnny is born he appears to be a healthy, cute and handsome baby boy. When Johnny starts crawling and walking his parents noticed that he bleeds a lot from small injuries. He also has lots of bruises and bumps. The parent’s are concerned and take him to the doctor. The doctor sends the family to the lab for a series of blood tests. The doctor says that he has some bad news. He says that “Johnny has Hemophilia A”. The parents are shocked to hear such frightening news.
Since there is no known cure for hemophilia. The disorder must be controlled. Johnny has regular IV infusions of clotting Factor V111 to control the hemophilia. The clotting Factor V111 can come from human blood (from human donations) or the lab. Johnny must be very careful when learning to walk. Helmets and padding help to protect him from serious bleeding episodes. Research continues to help control the effects of hemophilia on Johnny boy. Currently, the death rate for males with hemophilia is twice that of healthy males. Let’s help Johnny.
Part 2
I needed to research several questions to create my mutation story.
What in the world is hemophilia?
What causes hemophilia?
What are the affects of hemophilia on the host?
What is it like to have hemophilia?
I had lots of questions because I’ve never really heard about hemophilia. When I hear that dreadful word I’m so glad I don’t have hemophilia.
I tried to use various digital tools for my project. I used YouTube, Edublog, and google. For the first time I used Edublog to create and edit my science project. I would use it again.
To investigate this topic I looked at videos and websites to better understand what hemophilia truly is. I made sure my sources were all providing similar information about hemophilia. After I had a better understanding of hemophilia, I found more specific information. I have listed below the websites and the videos I used for learning about hemophilia.
Hemophilia-Mayo Clinic
The process of completing this challenge wasn’t too bad, but there’s room for improvement. I felt that I fulfilled the requirements for the project. I could’ve started on my project sooner, so I wasn’t feeling so rushed on getting this project completed. If I started earlier then the quality of this project would be better. I felt that I have learned a lot about this interesting disease I’ve chosen to do my project on. I would recommend doing this type of project on hemophilia to another student. 🙂