Genes That Cause Increased Blood Clotting
Carissa Bersche
Thrombophilia describes bloods increased ability to clot. Thrombophilia can be acquired or inherited. Acquired thrombophilia could come from surgeries, while inherited thrombophilia comes from your genetics. The word thrombus means clot, clotting is the bodies defense to bleeding out. Blood cells called platelets and blood cells called clotting factors interact to regulate blood clotting. These interactions can induce clotting when bleeding or inhibit clotting when not bleeding. Clotting factor proteins prevalence and location is imperative to the balance of blood clotting. Inherited thrombophilia may result in the wrong number of clotting factor proteins, or they may be misshapen.
Like all proteins, blood clotting proteins are made by linking amino acids together according to the code of the DNA. A DNA mutation can result in the linkage of incorrect amino acids. Thrombophilia is when the DNA is mutated to cause either too much or too little production of clotting proteins, or the protein is produced in the correct numbers but is not the correct shape. The most common mutations that impact blood clotting are factor v. Leiden and prothrombin G20210A.
Factor v. Leiden is always obtained by inheritance. In this scenario it helps to clot blood, when bleeding more factor v. Leiden is produced. Protein S and Protein C regulate the production of factor v. Leiden, additionally, they break it up once it has finished clotting. In this form of mutation factor v. Leiden is misshapen and, therefore, can’t be broken apart once clotting is complete. A genetic test or blood sample can test for this mutation. The prevalence of factor v. Leiden mutations vary in severity and prevalence in different ethnicities. In Caucasians about 5% of people have this mutation, in African Americans, Hispanic Americans, and Native Americans 1-2% of people have this mutation, and it is very rare in Asian Americans.
The prothrombin G20210A mutation causes too much of the prothrombin protein (which helps blood clot) to be produced. Prothrombin is usually produced when blood vessels break, but if you produce too much prothrombin blood can clot even without the breakage of blood vessels. Genetic testing can scan for this mutation. The prevalence of this mutation is also related to race. About 2-4% of Caucasians have this mutation while 0.4% of African Americans have this mutation.
Thrombophilia is a dominant mutation, so only one copy of a mutated gene is needed for a person to exhibit symptoms of this mutation. Being homozygous (both copies of the gene are mutated) is linked to a higher risk than if you are heterozygous (only one copy of the gene is mutated) for severe symptoms.
Why does it make sense that having both copies of the mutated gene leads to more severe symptoms?
Why might ethnicity have an impact on the prevalence of these mutations?
Why is increased blood clotting dangerous?
Varga, E. (2018, August 08). The Genetics of Thrombophilia. Retrieved December 10, 2020, from https://www.stoptheclot.org/news/the-genetics-of-thrombophilia/
I think ethnicity may have an impact on blood clotting because of the diet and the region of different ethnicities. Maybe some foods can cause it and also the region of your original ancestors maybe affect your genes.
ReplyDelete-Angeline Upchurch
It makes sense that having both copies of a gene leads to more severe symptoms, as there is no gene without a mutation that is healthy. Race can have an impact on these mutations based on how these mutations were selected for historically. For example, sickle cell anemia is more prevalent in Africans as it reduced the severity of malaria, something similar could occur with these clotting proteins. Increased blood clotting is dangerous as it can cut off blood flow to certain areas.
ReplyDelete- Carissa Bersche
I makes sense that if an individual has both copies of a mutated gene that they experience more severe symptoms because having double the gene, both having bad impacts, would mean you'd experience double the trouble.
ReplyDelete-Raquel Morgens
Increased blood clotting is dangerous because it can be fatal and life threatening. They cause damage to our organs' function. Blood clots can lead to Heart Attacks, Kidney Failure, Stroke, Pulmonary Embolism, etc. Also, if a person has both copies of the same genes, it is logical to interfere that the effects would be more intense or severe. Like Raquel put it, "double the trouble".
ReplyDeleteTrinity Mathis
Increased blood clotting can take a very dangerous toll on the human body as it leads to other circulatory issues. If someone has two copies of the affected gene, their symptoms will most likely be more extreme and they would require a lot more medical attention. -Shirin Saha
ReplyDeleteIf a blood clot travels to your heart it's fatal, you can get a hard attack and die. It make sense that having both copies of the mutated gene leads to more severe symptoms because if you have kids they will all be be heterozygous and if you have more than one mutation that means you got two genes that are messed up, so that's going to make your symptoms worse.
ReplyDelete-Ilori Tankpinou
Blood clotting is a necessary process that can prevent you from losing too much blood in certain instances, such as when you're injured or cut. When a clot forms inside one of your veins, it won't always dissolve on its own. This can be a very dangerous and even life-threatening situation.
ReplyDeleteAlyssa Butts