Hemophilia

Hemophilia is a genetic disorder that harms the body’s capacity to control blood clotting, which is used to prevent bleeding caused by a damaged or broken blood vessel. There are many types of hemophilia, each of which causes prolonged bleeding. For example, people who have hemophilia and have a cut will bleed for a longer time than normal. It is usually inherited, and is a lifelong disease, though it can be managed and treated effectively.

Symptoms

There are several symptoms of hemophilia. Excessive bleeding is typically the most common. The amount of bleeding will depend on just how severe the case of hemophilia is. The excessive bleeding can be caused by an accident, a trip to see a dentist, or undergoing surgery. External bleeding signs include bleeding in the mouth from a bite, cut, or from a tooth falling out, nosebleeds caused by no apparent reason, bleeding from a cut that stops but begins again a short period of time, or heavy bleeding from a minor cut. Signs of internal bleeding may include bloody stool (internal bleeding in the stomach or intestines), bloody urine (bleeding in the bladder or kidneys), or large bruises. This bleeding can happen without any external injury. The joint may become hot to touch, swollen, and very painful to bend. Hemophilia can also cause internal bleeding to occur in a person’s brain. This is a very rare but a dangerous complication. It can occur after suffering a blow or strike to a person’s head, and result in long-lasting headaches, sudden weakness, changes in behavior, repeated vomiting, seizures and convulsions. The NHLBI provides more information on the various symptoms of hemophilia.

Causes

The main cause of hemophilia is a deficiency of clotting factors. It is inherited, meaning all patients start life with the disorder at birth. It is caused by a defect in one of the genes on the X chromosome that determines blood clotting in the body. A male who has the hemophilia gene on his X chromosome will suffer from hemophilia, but this is not necessarily the case with females, because they have two X chromosomes. It is extremely rare to have the faulty gene on both chromosomes. A woman can be a carrier however, and pass it on to their children despite not suffering any symptoms herself.

Prevention

Unfortunately, because hemophilia is an inherited genetic disease, it cannot be prevented. People who have hemophilia or women who are hemophilia carriers should talk to their family doctor or health professionals about having a child. If you do have hemophilia, it is important to maintain a healthy body weight to reduce stress on your joints, which can lead to bleeding episodes and chronic pain. You also want to create an exercise plan, preferably with your doctor, which is effective and safe. Regular exercise can strengthen the muscles and joints and prevent bleeding episodes.

Treatment

There is also no cure at this time, although most people suffering from hemophilia live fairly normal lives. The main treatment for hemophilia is replacement therapy.

This therapy consists of clotting factor VIII or IX slowly dripping into a vein (or injected into a vein). Mild hemophilia A is treated with a slow injection into the vein of a hormone which stimulates a release of more clotting factor to prevent excessive and dangerous bleeding. In severe cases of hemophilia A or hemophilia B, the bleeding might only stop after an infusion of clotting factor derived from genetically engineered products or donated from human blood. These infusions help replace a clotting factor that is low or missing. Regular preventive infusions may help stop bleeding as well. Your doctor can train you to perform infusions at work, home, or school. If the internal bleeding has damaged the joints, physical therapy can help them function better.