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Hemophilia Essay

1111 words - 5 pages

Figure 1: Coagulation factor VIII
Figure 1: Coagulation factor VIII
Over 400,000 people around the world suffer from hemophilia and about 300,000 individuals have little to no treatment on their disorder. Vaccines and drugs are costly to produces and to administer to the affected individuals so more cost-effective therapies are required. There have been tests on gene transfer but these tests show no results to form a stable version of factor VIII or IX. More testing and clinical trials are being performed to produce a more stable version of the coagulation factors. Bioengineering coagulation factors show positive signs for victims with hemophilia which will further ...view middle of the document...

Females have a low chance of acquiring the disorder because if a females have two X-chromosomes. If one X-chromosome carries the disorder and the other is a healthy chromosome, then the healthy chromosome could mask over the disorder. Males have one Y-chromosome and 1 X-chromosome; so if their X-chromosome has the disorder then there is nothing that can mask over it. If a male without hemophilia crosses with a female with hemophilia they will have a 25% chance of having a son without hemophilia, a 25% chance of a daughter not being a carrier, a 25% with a son with hemophilia, and a 25% of a daughter carrier. A famous case of the heredity of hemophilia was seen in the Royal Families of England from during Queen Victoria's reign. Queen Victoria was a carrier so she passed down to her son Leopold. He later would die due to a brain hemorrhage. The disorder then should up in his daughter and later kill her son, Rupert.

Figure 3: Pedigree of Queen Victoria
Figure 3: Pedigree of Queen Victoria
Current treatments for patients with hemophilia under what hospital call, replacement therapy. Clotting factor VIII and clotting factor IX are injected into the veins of the patient, this injection help replace the clotting factor that's missing or low. Prophylactic therapy is having replacement therapy on a regular basis. Prophylactic therapy is a very expensive cure for victims of hemophilia. In addition there are many complication with replacement therapy for hemophilia; inhibitors, which show up in about 20% of people with hemophilia A and 1% in people with hemophilia B, causes an attack the clotting factors, ceasing the treatment Another complication is that, because the clotting factors are produced from human blood. There are other medicines for hemophilia that includes antifibrinolytic and desmopressin, but they are periodically taken and offer no long term relief. The average cost per patient for treatment for hemophilia is around $18,000 a month. Gene therapy would more cost-effective and a reliable cures, but is still in preclinical testing. Gene therapy is essentially genetically modified virus that produces a functional copy of the human Factor VIII or Factor IX gene. During development the bioengineered clotting factors demonstrated “improved biosynthesis ...enhanced biological properties.” Patients with nonsense mutation could receive a cure...

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