DiseaseChayla BitetteMs. Dee and Ms. SicilianoJanuary 29, 2018 Hemophilia is a bleeding disorder. It can make the body not be able to clot blood normally, and have excessive bleeding after an injury There is a defect in one of the genes which determines how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes. Clotting factor is a protein in blood that controls bleeding. People with hemophilia do not bleed any faster than normal, but can bleed for a longer amount of time. It often affects the head, stomach, joints, knees, elbows, and ankles. Symptoms may include many large deep bruises, joint pain and swelling, unexplained bleeding, and blood in urine. These symptoms can cause build up of blood (hematoma), blood clotting, and abnormal bleeding. If a gene is faulty, the result is hemophilia unless there is a dominant, normal gene on the same X chromosome. Hemophilia is a sex-linked recessive disorder. If someone is the carrier of hemophilia, but the other person is not, there is a fifty percent chance their child will have hemophilia (more likely in a boy). If two people are carriers of hemophilia, there is a one hundred percent chance of having it. If there is no carrier of hemophilia in a relationship there is still a chance one can get it, even with no family history. This is because of a mutation that can occur. When a father has hemophilia but a mother does not, none of the sons will have hemophilia, but, the daughters will carry the hemophilia gene. These kinds of defects occur more often in men than in women.Woman can only have hemophilia if their father has it or if their mother is a carrier. This is very uncommon. For a gene to cause Hemophilia, in a female who has two X chromosomes, a mutation would have to occur in both copies. There are two main types of Hemophilia. Hemophilia A (due to clotting factor VIII deficiency) is the most common type of Hemophilia. Factor VIII is what ones body is supposed to make so it will stop internal bleeding. “The characterizations of point mutations in the factor VIII is important, not only as a means towards the basis of CpG hypermutability with all its diagnostic implications,but also as a way of relating the structure of the factor VIII protein to its function,” it is stated in “The Molecular Genetic Analysis of Hemophilia A: A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VIII Gene.” The CpG sites are sections of DNA in which a cytosine nucleotide is followed by a guanine nucleotide. This occurs in a linear sequence of bases; meaning along its 5′-> 3′ direction. Hemophilia B (due to clotting factor IX deficiency) occurs in one of twenty thousand newborns around the world. Hemophilia B can be known as Christmas disease because it can cause spontaneous bleeding. Both Hemophilia A and B are clinically almost identical and are inherited in an X-linked recessive genetic pattern. Depending on the severity of the hemophilia, symptoms can be worse or less likely. This can range from normal to severe.In “The Molecular Genetic Analysis of Hemophilia A: A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VIII Gene,” an experiment was conducted in which they collected blood samples from 793 people with Hemophilia A. Four hundred sixty five of these people had severe hemophilia, sixty four with moderately severe, one hundred forty five undetermined, and one hundred nineteen with mild. From this research I learned that not only could a certain gender be affected, but a certain ethnicity. Not only that but also how CpG, factor VIII deficiency, and codons can affect a mutation and how it affects someone. Today, treating hemophilia can be very effective. Genetic counseling such as hematologists can help those with hemophilia assess and understand the risks of activities and treatments, and what options can be achieved. If a clot is treated quick and effectively it will help reduce pain in the joints, muscles, and organs. To treat a clot, the clotting factor that is missing when one has hemophilia is injected into the bloodstream. When enough clotting factor is injected the bleeding will stop. The worse one is harmed, the more clotting factor they may need. There is no cure yet and they are currently trying to find one. Without treatment, if one has severe hemophilia it may be hard to go to school or work and they can even become physically disabled. The treatment can be given for bleeding into a joint, injury to the neck, mouth, tongue, face, or eye, severe pain, swelling, open wounds, and more. Acetylsalicylic acid (Aspirin) can cause more bleeding as well as other drugs so it is important to avoid those types of medicines. The diagnosis of hemophilia can include clotting factor tests where a blood sample is taken and the factor levels are measured, or screening tests that portray whether or not blood is clotting correctly. Hemophilia can affect many people around the world depending on whether or not their mother is a carrier and if a mutation occurs.Up to a few decades ago, many hemophilia patients died prematurely and did not get the right treatment for the disorder. Many of the deaths were the result of an injury or a surgery because they did not have enough research. Over the last forty years treatment has advanced so much that most patients today will live long and active lives.