Genetics Hemophilia Presentation By Will Mcauliffe-Trefz-Genetics

How does Hemophilia occur? The two types of hemophilia are caused by permanent gene changes or mutations. Mutations in the Factor VIII gene cause hemophilia A. This is needed for blood clots and people who have hemophilia have problems with either this gene or the Factor IX gene. Mutations in the Factor IX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop along with other side effects. Genetic testing of the factor VIII gene and the factor IX gene shows us that the FVIII gene makes a mutation in up to 98 percent of individuals who have hemophilia A and the factor IX gene causes hemophilia B in 99 percent of people.

HISTORY? In 1803 Dr. John Otto realized that hemophilia was hereditary and that it affected mostly males. He also though that it was passed down by healthy females. The though that males who had hemophilia could pass the trait onto their unaffected daughters was not described until This is when John Hay published an account on hemophilia. Hemophilia is much more likely to effect men rather than women.

Can it be passed??? YES, hemophilia can be passed through generations. Hemophilia is a condition that is considered a X-linked gene mutation. It is located on the X chromosome which is the chromosome present in males and in females. One messed up copy of the gene in each cell is enough to cause the condition. Since females have two X chromosomes the condition is much less likely to occur in them. Fathers cannot pass X-linked traits to their sons. A female who is a carrier has a 50% chance to pass on her X chromosome with the gene mutation for hemophilia A or B to a boy who will be affected. The female also has a 50 percent chance to pass on her X chromosome with the normally functioning gene to a boy who will not have hemophilia.

How is it diagnosed/Symtoms Genetic testing is typically used to identify women who are victims of the gene mutation, and to diagnose hemophilia. Diagnosing hemophilia before birth is also possible using the same method. It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B. Symptoms of hemophilia include extended bleeding times, renewed bleeding after initial bleeding has stopped, easy or spontaneous bruising and even tooth issues.

How is it treated? There is currently no cure however treatment options are dependent on how bad a case The individual has. Treatment may involve slow injection of a medicine called desmopressin into a vein. DDAVP or desmopressin helps hemophilia victims by release of more clotting factor to stop the bleeding. This is sometimes a nasal spray. Victims of more sever hemophilia use different treatment. They may need to have an infusion of clotting factor taken from donated human blood. This could even come from genetically engineered products called “recombinant clotting factors” to stop the bleeding. If the potential for bleeding is serious infusions of clotting factor can avoid bleeding before the bleeding begins. This may need to be done more then once. When bleeding has damaged the body physical therapy can be used to help. Sometimes the bleeding into joints damages them or destroys them which is what physical therapy tries to prevent. If this happens the person may need artificial parts. Researchers are starting to develop a gene replacement treatment for Hemophilia A. The results are giving much hope to patients, and doctors hope a cure is on the way.

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