Hemophilia is the most well-known disorder of bleeding. It is characterized by severe symptoms in some patients such as bleeding into the muscles, joints and brain. It is known as an X-linked condition because it is inherited by children mostly from their mother, and it affects 1 in every 5,000 boys that are born. It is recognized that women not only pass on the disorder, but frequently have problems with bleeding themselves. The bleeding condition has been recognized all throughout the history of mankind and is most well known because how it affected the Royal families of Europe starting with Queen Victoria of England. One of her most famous descendants was Tsarevich Alexis Romanov of the Russian Empire who came under the care of Rasputin the Terrible. Rasputin used his influence on the family in brutal ways and contributed to the fall of the Romanov family and the entire Russian Empire.
Hemophilia is caused by a mutation on the X chromosome that prevents a person from making enough working Factor 8 or Factor 9. These factors are key proteins in the body’s mechanism to form a blood clot, therefore a clot does not form properly and bleeding becomes prolonged and severe. Hemophilia is treated in several different ways based upon the severity of the bleeding. Ice and pressure of the area bleeding can be effective when the bleeding is mild. There are also medicines that patients may take as nasal sprays or by mouth (Stimate ®, aminocaproic acid, tranexamic acid) to help decrease bleeding when it is more severe. Ultimately, there are replacement products that are put into patients’ veins that can replace the missing factor. These are used with very severe or difficult to control bleeding episodes, and in patients who bleed frequently toprevent the long-term injuries that may occur from bleeding.
The factor products used today are extremely safe, but this has not always been the case. When HIV and AIDS, as well as Hepatitis C, were first recognized in the U.S blood supply, the hemophilia population was one of the first affected The factor supply used by most hemophiliacs quickly became contaminated and overwhelming numbers of hemophilia patients became infected. Ryan White, a hemophiliac living in Indiana who was infected, used his condition to spur the development of effective screening of blood donations, making it safe for everyone and the creation of drugs used to treat HIV today. Sadly, Ryan White lost his fight against the infection in 1990, as so many other hemophiliacs have. The hemophilia community demanded the creation of recombinant products, free of any blood components, that are most widely used today.
Since these tragic times, new options for treatment have made infusion with replacement products safer, easier, and more convenient. Factor replacement therapies can last much longer requiring fewer injections, subcutaneous delivery is common, and gene therapies are available that allow for factor free lives lasting decades. The University of Florida has been at the forefront of these advances and is committed to make these advances accessible to everyone.