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Hemophilia
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Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in the United States have hemophilia. About 1 in every 5,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male can't pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia.
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Hemophilia is a rare hereditary disorder in which the ability of patients’ blood to clot is impaired. As a result, the patient suffers from excessive bleeding and uncontrolled internal bleeding, leading to pain and eventual permanent damage to joints and muscles. There are two different forms of hemophilia, both generated by mutations to distinct genes. Hemophilia A results from mutations that impair the production of Factor VIII. Hemophilia B results from mutations that impair the production of Factor IX. It has been reported that even with “proper treatment” the life expectancy of hemophilia patients is about 10 years less than for individuals without hemophilia.
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Everyone is invited to participate in Team Hemophilia by visiting http://www.teamhemophilia.org where Team Hemophilia race packages will be available through Ebay online auctions. Packages contain all of the VIP benefits and the Race Weekend Packages ... include round-trip airfare and hotel accommodations for two. Those who can't make it to the track on race day can show their support by shopping for autographed Team Hemophilia products, sending an E-postcard to a friend, or making a donation to the NHF.
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Hemophilia was identified as early as biblical times. Doctors in medieval times were familiar with it as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States. But it was not until 30 years later that hemophilia became widely recognized. Hemophilia later developed a reputation as the "royal disease" because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe.
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Hemophilia is caused by a genetic mutation, which is a change in the gene for factor VIII or factor IX. This occurs on the X chromosome that contains genetic information in human cells. If there is a family history of hemophilia, the mother is a carrier and her son will have the type of hemophilia as her relatives. If there is no family history of hemophilia, the child's hemophilia is due to a new mutation and the mother may or may not be a carrier.
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Hemophilia B is managed with factor IX concentrates. Factor VIII concentrates are ineffectual in this type of hemophilia. The use of Factor IX concentrate are to maintain a patient through a major surgical procedure. Factor levels should be measured to ensure that expected levels are achieved and that an inhibitor is nor present. Factor IX concentrates contain a number of other proteins, including activated coagulating factors that appear to contribute to a risk of thrombosis with recurrent usage of Factor IX concentrates. Because of the risk of thrombosis, more care is needed in deciding to use these concentrates.
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