Hemophilia is a genetic disease: mutations on the X chromosome result in low levels of blood clotting factors VIII or IX. The mutations that cause low levels of clotting factor are carried recessively on the X chromosome. As women have two X chromosomes (XX), the mutated gene would have to be present on both chromosomes to cause the disease, and this is exceedingly rare. Since men have only one X chromosome (XY)... Read more >
Hemophilia's main symptom is bleeding. Defects in blood coagulation factors result in low levels of fibrin, which impairs the body's ability to create strong blood clots. How coagulation factors work is discussed in greater detail on the Coagulation Factors web site. Bleeding, Bruising, and Other Hemophilia Symptoms Extensive bleeding and easy bruising are common hemophilia symptoms. Contrary to popular belief... Read more >
In addition to bleeding, people with hemophilia must be on the watch for a number of health complications. Medications must be controlled carefully; taking aspirin, NSAIDs and other blood-thinning drugs can lead to serious consequences. Dental hygiene must be carefully maintained. Finally, hemophilia patients who require transfusions of blood products are at increased risk of contracting viruses from infected... Read more >
Replacing Blood Factors and Desmopressin Therapy Hemophilia is treated by supplementing low levels of blood factor proteins with healthy replacement clotting proteins. These proteins are most often administered intravenously. In this way, the clotting factors enter the bloodstream directly and are spread quickly throughout the body. The frequency of treatment depends on the severity of the hemophilia... Read more >
Hemophilia is a perfect candidate for gene therapy research: the disease is caused by mutations to a single gene. Hemophilia could be cured if clinical trials discover a way to replace or "repair" the defective gene. 'Infecting' the Body with Gene Therapy Hemophilia gene therapy research seeks to replace the defective gene with a normal, fully functional, gene. Researchers have been successful in developing... Read more >
Hemophilia is a blood disorder that prevents blood from clotting properly, leading to uncontrolled bleeding. Hemophilia is actually a collection of several different genetic disorders passed on by heredity. The two most common types are hemophilia A and hemophilia B.Hemophilia usually affects males. In fact, one out of every 10,000 males is born with hemophilia A. Approximately 17,000 Americans are born with the... Read more >
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