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 symptoms. Mild hemophilia may only require blood factor replacement before surgery or dental work. Severe hemophilia may require prophylactic treatment: blood factors are replaced several times a week to prevent bleeding incidents.
Safer Plasma Protein Pooling
In the 1980s, replacement blood factor proteins were “harvested” from plasma donated by thousands of people. HIV and hepatitis C were transmitted to many hemophiliacs through this pooled plasma.
Blood factors gathered through donated plasma are much safer today. Stringent donor screening and more effective viral inactivation techniques have significantly reduced the chances of transmitting viral-infected proteins through plasma.
Recombinant Blood Factors
Although donated plasma is safer than it was in the 1980s, new recombinant blood factors are even safer. Recombinant blood factors are synthesized in laboratories using DNA technology. The risk of viral infections is negligible, as the blood factors are artificially created in controlled environments.
Recombinant therapy using blood factors IX and VIII is eighty percent as effective as traditional hemophilia treatments. A single dose is sufficient to stop uncontrolled bleeding in most cases. Recombinant blood factors are, however, three times as expensive as blood factors gathered from donated plasma.
The blood factors used for hemophilia therapy, whether gathered from donated plasma or created using recombinant DNA techniques, may be seen as foreign substances by the body’s immune system. If the immune system perceives the blood factor proteins as a threat, it creates inhibitors, or alloantibodies, to attack the “invading” protein. This can inactivate the clotting factors.
Alternative Blood Factor Proteins
The ability of these inhibitors to destroy replacement blood factor proteins adversely affects hemophilia treatments. Larger doses of blood factors are often used to counteract inhibitor action, or blood factors may be increased slowly in the hope that the immune system will learn to tolerate the foreign protein.
Inhibitors make it difficult to treat hemophilia A or B with factors VIII or IX. Instead of replacing the missing blood factors, treatment may instead increase the levels of blood factor proteins already produced by the body: protein factors which will not be identified as threats by the immune system.
However, use of blood factors VII, IX, and X has only proven fifty to sixty percent effective when inhibitors prevent the replacement of factors IX or VIII. Recombinant versions of blood protein VII have shown more promise: clinical trials have shown it to be almost eighty percent efficient.
Desmopressin is a medication used to treat mild cases of hemophilia. Although desmopressin does not affect blood factor IX, the medication does increase the levels of blood factor VIII, making desmopressin useful in the treatment of hemophilia A. Desmopressin is based on the hormone DDAVP.
Unlike blood factor replacement, which usually requires intravenous administration, a single shot of desmopressin is injected slowly into a blood vein for mild cases of hemophilia. In some cases, desmopressin may also be administered through a nasal inhaler.
Physical Therapy and Hemophilia
Severe hemophilia may cause bleeding into the joints, a painful event that gradually deforms the joint and reduces joint mobility. Physical therapy may be required to maintain joint mobility. Regular physical therapy also helps prevent physical joint deformities.