Handling Hemophilia
You cut yourself chopping up veggies for dinner. The bleeding goes on, for what seems like, forever. You end up going to the emergency room because you are worried about the bleeding. You could have hemophilia.
Hemophilia is caused by inability to clot blood due to the deficiency of the blood protein, factor VIII, which is one in a series of proteins needed for blood clotting. Its absence is because of a defective gene.
The condition is more prevalent in men than women because it is found on the X chromosome. Females are carriers of this genetic defect.
The severity of the condition varies from person to person. Bleeding into the joints of the body is the most common occurrence. This usually starts when the person reaches the toddler stage. These episodes are painful and, if not treated, can cause deformities of the joints.
Injuries and even minor surgery can lead to excessive bleeding. It is suggested that children with hemophilia refrain from participating in overly physical sports, such as football and karate, due to the high risk of bruising and injuries.
Blood clotting tests are used to determine if the protein factor VIII is present. If you are diagnosed as a hemophiliac, there are a number of treatments available.
There are two forms of hemophilia, hemophilia A and hemophilia B. Treatment depends on whether you have hemophilia A, caused by a mutation in the gene for factor VIII or hemophilia B, caused by a mutation in the gene for clotting factor IX.
Those most severely affected must inject themselves every couple of days with the missing proteins clotting factor VIII or factor IX. The shots keep hemophiliacs alive, but levels of clotting proteins drop between injections.
Even with regular injections, people with hemophilia risk uncontrolled bleeding into a muscle or joint or even the brain. They must be extremely careful. Once bleeding begins, a joint may bulge as the joint space fills with blood. When the bleeding stops, the joint may be damaged.
Despite their vigilance, most with severe disease eventually develop permanent joint damage from bleeds, often leading to surgery for ankle fusion or hip or knee replacements at an early age. Most live with chronic pain from past bleeds.
Even routine flights are risky, carrying luggage around, you can twist the wrong way and trigger a bleed. People with hemophilia may change jobs to access treatment easily or get enough health insurance coverage to take care of this procedure.
In recent years, gene therapy has proven to be somewhat successful. The goal of gene therapy is to reduce or eliminate patients’ need for injections with clotting factor and to reduce the number of bleeds. The gene to be inserted depends on whether the patient has hemophilia A, caused by a mutation in the gene for factor VIII or hemophilia B caused by a mutation in the gene for factor IX. Although the symptoms are the same for both forms of the disease, hemophilia A is the most common.
In one clinical trial for hemophilia A, patients on average got normal or above normal levels of factor VIII in their blood, but in the second year, those levels dropped to a median of 46 percent. Meanwhile, patients in a hemophilia B trial, reached on average 35 percent of normal blood levels of factor IX. The good news is that those levels are sufficient for blood to clot because normal levels are more than people need.
These positive results open up a plethora of possibilities for hemophiliacs who are used to the fear of bleeding internally and having to pay upwards $1 million a year for hospitalizations and surgeries plus $250,000 to $300,000 for clotting proteins.
Gene therapy can mean giving up a lifetime of wariness that is first hand to hemophiliacs. It means less or none of the injections of clotting factors. An opportunity to experience life as a healthier being.
