Imagine yourself struggling from a severe case of hemophilia. It may be hard to, considering that hemophilia demands a lifetime of intensive therapy, usually on a weekly basis. And yes hemophilia has a cost, in many cases up to $150 thousand a year. Hemophilia stands as the most expensive chronic disease in the United States, and more than eighteen thousand people are paying that cost. Given these disappointing truths of the struggles from hemophilia, I would wish to work among the many researchers in pursuit to cure this genetic disorder.
An average of 400 babies a year are born with hemophilia in the United States. These children are born with a low level or missing protein needed for blood coagulation, known as the clotting factor. Hemophilia may also be diagnosed after antibodies disrupt the function of clotting factors. The most common form of hemophilia is hemophilia A (Clotting Factor VIII) which is diagnosed in 90% of hemophiliacs. Since the disorder is an X chromosome linked genetic transmission, hemophilia occurs mostly in males. Although treatment is dependent on the severity of hemophilia, all hemophiliac persons need attentive care throughout a lifetime since a single cut or bruise may threaten their mobility or even their life. Any blood vessel opening is a great risk, from a single fall to dentist work. Replacement therapy is a common treatment. Hemophiliacs are able to receive clotting factor concentrates through injections weekly. However, people with mild hemophilia A are able to take a synthetic hormone called desmopressin which raises the body's levels of Factor VIII. Desmopressin does not treat people with hemophilia B.
The development of antibodies to the treatment is a common complication, making the treatment no longer effective. These antibodies develop in 20% of people with hemophilia A and 1% of people with hemophilia B. Delays in treatment often causes damage to joints, muscles, and many other vital parts to the body. Researchers are studying ways to deal with antibody development against the treatments.
Already, researchers have been discovering potentially safer ways to replace the missing protein in hemophiliac patients. Researchers at the University of Florida found that the strands of DNA that has been in fish for millions of years may be the key to replacing the genes responsible for the genetic disorder. By placing the corrective DNA well hidden in a virus, the virus can infect cells with the new DNA strands. Although this method has been effective for lab mice with hemophilia, researchers continue to find ways to make the virus effective to humans. Non-viral methods have been already studied and have been proven not to treat the genetic disorder.
I believe that I, as a genetic researcher, would continue the study of transposons that would transport the correctional genes directly to the DNA with a safer, non-viral approach. By using a transposon, a hemophiliac's disordered genes may be mutated and corrected to be non-existent for the future generations to come, just as in the past century we eliminated small pox, and nearly polio, with our scientific knowledge. According to the Center for Disease and Prevention, hemophilia is the most common form of chronic disease, thus inspiring me to take the initiative to bring the disorder to its end.
2007-03-19 16:00:26
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answer #1
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answered by dman 2
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Haemophilia or hemophilia is the name of several hereditary genetic illnesses that impair the body's ability to control bleeding, an impairment known technically as bleeding diathesis. Genetic deficiencies and a rare autoimmune disorder may cause lowered plasma clotting factor activity so as to compromise blood-clotting; when a blood vessel is injured, a scab does not form and the vessel continues to bleed for an excessive period of time. The bleeding can be external, if the skin is broken by a scrape, cut or abrasion, or it can be internal, into muscles, joints or hollow organs. The result may be visible (e.g., skin bruises) or subtle (e.g., melena, hematuria, or bleeding in the brain). This is called the lack of clotting factors - Haemophilia A has a lack of the clotting factors 8 - and Hemophilia B has a lack of the clotting factors 9 - Hemophilia A occurs in 90% of cases.
2007-03-19 14:20:45
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answer #2
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answered by ANITHA 3
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Hemophilia is an inherited blood disease. It symptoms are characterized by severe, and sometimes spontaneous bleeding
2007-03-19 13:36:00
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answer #3
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answered by James H 1
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It's a hereditary disease where one's blood doesn't clot normally, due to a missing component in the blood. It is very dangerous because even small cuts and bruises can result in much internal or external bleeding if not taken care of properly.
2007-03-19 13:35:21
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answer #4
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answered by nach17mets 2
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It is an inherited blood disease,blood will not clot normally
http://www.emedicinehealth.com/hemophilia/article_em.htm
2007-03-19 13:28:54
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answer #5
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answered by tuppenybitz 7
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It's a disease that impairs the body's ability to control bleeding, and stops the body from being able to clot blood. If someone who has it gets cut, the bleeding will take alot longer to stop than if anyone else got cut, and it might not stop by natural causes.
2007-03-19 13:29:15
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answer #6
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answered by Daniel S 2
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In simple terms, it's a disorder where blood doesn't clot properly. For more details, see the link.
2007-03-19 13:26:37
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answer #7
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answered by Wanderer 4
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It's a hereditary, genetic blood illness that impairs the body from controlling bleeding
2007-03-19 13:28:23
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answer #8
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answered by ami 4
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It's where your blood can't clot properly, so that if you fall or bump even slightly, and vesells are broken, it can lead to a lot of serious internal bleeding.
2007-03-19 13:27:43
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answer #9
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answered by k 2
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A condition where the blood does not clot properly.
2007-03-19 13:26:53
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answer #10
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answered by Skyhawk 5
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