Hemophilia is an inherited bleeding disorder that affects mostly males, although females can have related bleeding disorders. There are proteins in our blood, called clotting factor, that form blood clots when a vein or artery is damaged, but people with bleeding disorders are missing these clotting factors, or they do not work as they should. There are thirteen clotting factors working together in our blood to form clots, and they are identified by the roman numerals I – XIII. If one factor is missing, or does not function properly, the chain reaction is broken and clots will not form properly. As a result, people with hemophilia bleed for longer periods of time than people whose blood factor levels are normal or work properly.
People with hemophilia do not bleed faster than other people, and will not bleed to death from a minor cut or injury. The main problem for people with hemophilia is internal bleeding into muscles and joints.
There are three classifications for the severity of hemophilia: mild; moderate; and sever. People with mild hemophilia may have very few bleeding episodes, and may only need to take precautions if they are having surgery or are seriously injured. People with moderate hemophilia bleed more frequently than patients with mild hemophilia, but usually only after an injury. People with severe hemophilia, however, often bleed spontaneously, which means that there is no obvious cause for a bleed; it just seems to happen.
With the proper treatments and care, people with hemophilia can live perfectly healthy lives. Without treatment, however, hemophilia can cause crippling pain, severe joint damage, disability, and early death. Tragically, only about 25 percent of people with hemophilia in the world receive adequate treatment.
Most bleeding in hemophilia occurs internally, into joints and muscles. Muscle bleeds usually occur in the upper arm, forearm, upper leg, calf, and iliopsoas muscle (the front of the groin area), and joint bleeds usually affect the ankle, knee, hip, elbow, and shoulder. Without prompt treatment, these bleeds can damage the cartilage and the bone in joints over time, leading to chronic arthritis and disability. Some serious bleeds, especially in the head, throat, gut, or iliopsoas, can be life-threatening and require immediate treatment.
Bruises are very common in children with hemophilia. A bruise is not usually cause for alarm unless it is on the person’s head or neck. A bruise could be cause for alarm if the person has a hard time moving, the bruise hurts, the lump in the bruise gets larger or does not go away, or there is swelling, numbness, or a tingling feeling. If any of these symptoms are experienced, contact your physician or local hemophilia treatment center immediately.
In order to treat hemophilia, patients replace the missing clotting factor in their blood by injecting the needed factor into a vein. When enough clotting factor reaches the bleeding site, a clot will form. In order to prevent long-term damage in joints, serious bleeds need to be treated immediately. Some mild forms of hemophilia can be treated using clotting factor in whole blood (from a transfusion) or blood plasma. However, more serious bleeding disorders must be treated with factor concentrates. Factor concentrates are very effective but much more expensive than other treatments. Concentrates can be made from human blood (called plasma-derived products) or manufactured using genetically engineered cells that carry a human factor gene (called recombinant products).
There is no cure for hemophilia yet but gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure for hemophilia. There are many technical obstacles to overcome, but it is encouraging to see that clinical trials for both factor VIII and IX have begun.
Prophylaxis, or the regular use of clotting factor concentrates to prevent bleeds before they start, is one way of avoiding damaging bleeds. Injections of clotting factor are given two or three times a week to patients in order to maintain a constant level of needed clotting factor in the bloodstream, and this can help reduce or prevent joint damage. In countries with good access to clotting factor concentrates, this is becoming the normal mode of treatment for younger patients, and can begin when the veins are well developed (usually between the ages of two and four years).
In addition to the prophylactic treatment, exercise is encouraged for hemophiliacs. Some people with hemophilia do not exercise because they think it may cause bleeds, but exercise actually helps prevent bleeds. Strong muscles help protect someone who has hemophilia from spontaneous bleeds and joint damage. Sports are an important activity for young people because they help build muscle, develop mental concentration and coordination, and learn about being part of a team. However, some sports are riskier than others, and the benefits must be weighed against the risks. The severity of a person’s hemophilia should also be considered when choosing a sport. Swimming, badminton, cycling, and walking are sports that most people with hemophilia can safely participate in, while sports like football, rugby, hockey and boxing are not recommended for people with hemophilia.