According to the dictionary Hemophilia is a hereditary disorder in which the blood fails to clot normally, causing prolonged bleeding from even minor injuries. This is only the very basis of this disorder.
First of all there are two kinds of Hemophilia. Hemophilia A and Hemophilia B. Hemophilia A is caused by lack of protein factor VIII and is found in 80% of hemophiliacs. Other names for this are classical hemophilia, factor VIII deficiency hemophilia.
Hemophilia B is caused by a deficiency of plasma protein called factor IX that affects the clotting property of blood. Its other names are Christmas disease and factor IX hemophilia.
The symptoms of this disorder are lengthy bleeding after circumcision, excessive bruising, swollen or painful joints, Swollen or tender muscles, excessive bleeding from the gums, tongue, or mouth following injury (seen particularly in infants and toddlers), severe bleeding after tooth extraction’s or other invasive dental procedures, and severe bleeding after injuries or operations. It is caused by an inherited sex-linked recessive trait located on the one X chromosome. The standard treatment for Hemophilia is infusion of factor VIII concentrates to replace the defective clotting factor. The amount infused depends on the size of the person, site of bleeding, and severity of bleeding. To prevent bleeding crisis Hemophilia patients and their families can be taught to administer factor VIII concentrates at home at first signs of bleeding. Patients with severe forms of the disorder may need regular prophylactic infusions. Even when a patient goes to the dentist they may need to take DDAVP or factor VIII concentrate to prevent bleeding. With all this treatment the patient is able to lead a pretty normal life. Though there is a small percent of patients who develop inhibitors of factor VIII and may die from blood loss.
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This disorder has been around for a long period of time. Back in 1853 Queen Victoria’s eighth child, Leopold, had Hemophilia. Cause of this he lived a life of pain and suffering, prolonged internal bleeding, and became crippled because of severe damage to his joints from repeated hemorrhages. Back then not many people had Hemophilia and there was not treatment. Now in just the US there is 20,000 hemophilia patients and each year 400 babies are born with this disorder. Of them 1 out of every 5,000 men have Hemophilia A and 1 out of 32,000 will have Hemophilia B. Hemophilia A is 7 times more common then B. Almost all those who are born with this disorder are male. This is because the disorder is carried on the X chromosome. Since a female has two X-chromosomes the one without the disorder balances out the other and this enables her to not have the disorder. This does however make her a carrier. Males on the other hand only have one X chromosome so if the X chromosome is infected then he will have the disorder, even though the disorder is recessive it still will show up. Even though sex matters race however does not. Any race can have this disorder.
This disorder comes in different levels of severity depending on how much clotting factor they have in their blood. The worst case is when there is extensive bleeding in the throat area or hemorrhage into the brain. Bleeding into the throat, if not properly treated, can interfere with breathing and patient may need to be put into a ventilator until bleeding stops and swelling goes down. Bleeding into the brain may cause permanent brain damage and disability or even death.
Treatment for hemophilia has become much safer but therapeutic products are still not risk free. The challenge for researches to cure the disease is in transferring normal genes into a patient so that they will produce the normal clotting protein. There is still a lot of research to be done however scientist are making progress. Studies have been done on animals such as dogs and mice in which a factor VIII or IX gene has been inserted and has produced the proper blood product for periods that exceed one year. Major issues that remain to be solved include the low level of production of the clotting factor, reduction of immune reactions that stop the production after a period, and development of ways to insert the gene directly into the body without manipulating cells outside the body. Up till just recently dogs were used for the research, however the number of dogs with hemophilia is decreasing rapidly. Recently, a mouse model of hemophilia produced through genetic technology. The availability of this small animal will accelerate the development of technologies for ultimate use in humans. It is thought that hemophilia will be one of the first diseases cured by gene therapy.
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In the United States it is estimated that most patients on prophylaxis which is begun in the first few years of life will easily exceed the common life time insurance cap of $1000000 by the second decade of life.
To conclude Hemophilia is not a very common disorder and in most cases not deadly. It does not mean that a person with hemophilia bleeds more. All it means is that they will not stop bleeding or may not stop as easily as a person without it.
