When symptoms of hemophilia are seen in a patient, genetic testing is used to determine whether the patient actually has the disorder or not. The testing involves a lot of different blood tests like a complete blood count, an activated partial thromboplastin time, and many others.
Symptoms of hemophilia can vary based on how severe the disorder is in that particular person, however, they are all generally the same. People with hemophilia tend to have a lot of large bruises, prolonged nosebleeds, excessive bleeding from biting the lips and tongue, blood in the urine, and internal bleeding in the joints which can cause a lot of pain and lead to arthritis. Children with hemophilia oftentimes will not move the muscle that is being affected because of pain, and this same internal bleeding in the joints can also lead to chronic damage.
There is no cure for hemophilia other than liver transplantation, which is very dangerous and can cause problems that are even more dangerous than the hemophilia. It is not very likely that a cure will be found in the near future, but the disorder can be managed pretty well with clotting factor replacement therapy. Clotting factor replacement therapy is the infusion of the mutated clotting factor into the patient's blood that is done periodically through and IV line. Once the factor has entered the blood stream, it starts to work quickly and stop joint damage. Though clotting factor replacement therapy works most of the time, between 14 and 25 percent of children develop inhibitors, which are antibodies to the clotting factor. Inhibitors block the action of the clotting factors and can make hemophilia hard to treat. However, there are ways to help the body overcome inhibitors so that it can tolerate the clotting factors.