Hemophilia Disorder

         Hemophilia is a genetic disorder that causes abnormalities in the blood clotting process; it slows it down and therefore does not clot normally. A person can have from very mild to extreme forms of this disease. This can occur both externally and internally in the human body. The external cases may include the following; constantly occurring nose bleeds, heavy bleeding from minor cuts, and reoccurring bleeding at cuts that have stopped. Internally, signs of bleeding may be blood in urine, stool, and large bruises. In severe cases, one can bleed in the joints, muscles, brain, or other internal organs.

         Hemophilia can be inherited from the parents. This condition is located in the X-Chromosome; women have two X chromosomes, and men have one X chromosome and a Y chromosome. From this it is easy to be misleading to the conclusion the women are more prone to have hemophilia, but it is actually more common for men to have it. This is due to the fact that men only have one X chromosome, so when that one chromosome has the gene for this disease they automatically will have this condition. For women, since they have two X chromosomes, both of the X chromosome needs to have the mutation to cause the disease. When only one of them has the gene she is considered to be a “carrier” which means she can pass it down. However, just because she is a “carrier” does not mean she will not experience symptoms just that those symptoms will be very mild, but still should be considered at risk for abnormal bleeding. It is rare for women to possess this gene disorder in both X chromosomes and therefore less likely to fully have it.

         In other cases it can also be acquired in a lifetime during adulthood. This occurs when a person’s body makes a special kind of proteins called antibodies. An antibody’s job is to attack things that might be of harm or cause disease to the body. However in this case they attack factor VIII, which is needed for blood clotting.  

         When a person has hemophilia, there are low or none clotting factors, which is a protein that performs normal clotting with the help of platelets. The way blood clotting works is that it protects the body by sealing off the damaged blood vessels and prevents excessive blood loss. The ADAMTS13 enzyme is responsible for processing a protein called von Willebrand factor that aids in this blood clotting formation. When diagnosed with hemophilia one might have A or B. Hemophilia A is where results from a coagulation factor VIII deficiency and hemophilia B is from a from coagulation factor IX deficiency. Mutations in the gene F8 and F9 reduce the amounts of factors produced and therefore cause Hemophilia A and Hemophilia B, respectively.  

 

 

This shows the mutated protein of a person with hemophilia A. The spheres indicate where the mutations are located.

 

Reference:

https://ghr.nlm.nih.gov/condition/hemophilia