Hemophilia

Hemophilia is an uncommon bleeding disorder. It means your blood does not clot properly. As a result, you may bleed longer following an injury, especially if the injury involves the knee, ankle, or elbow. The bleeding can be severe. The severity of hemophilia is related to the amount of clotting factor in the blood.

Hemophilia is passed from parent to child through genes. This means it is hereditary. There are 2 types of hemophilia:

  • Hemophilia A (also known as classic hemophilia or factor VIII deficiency). About 85% of patients have hemophilia A.

  • Hemophilia B (also known as Christmas disease or factor IX deficiency). About 15% of patients have hemophilia B.

CAUSES

Both types of hemophilia are caused by low levels or absence in the blood of a factor which helps with clotting. Patients with hemophilia A lack the blood clotting protein called factor VIII. Those with hemophilia B lack factor IX.

SYMPTOMS

  • Bleeding in the mouth from a small cut or bite.

  • Nose bleeds without any trauma.

  • Bleeding easily and heavily from small cuts.

  • Bruising caused by minor bumps.

  • Sore and swollen joints, caused by bleeding into the joint.

  • Blood in the urine or stool.

  • Excessive bleeding after any surgery or tooth removal.

DIAGNOSIS

Blood tests are used to diagnose this disease. These are done if your caregiver sees bleeding problems.

TREATMENT

Patients with hemophilia receive infusions of the factors they are missing. These replacement infusions can be made from human blood or from a blood-like liquid (recombinant concentrate). Based on the risk of side effects and the severity of your disease, you may receive therapy only when bleeding or you may receive preventive therapy.

RISKS AND COMPLICATIONS

There are a number of potential complications you need to consider, such as:

  • Risk of infection with human blood products.

  • Clotting factor infusions, like other blood products, can carry viruses causing HIV and hepatitis. However, recent advances in treatment have greatly increased the safety of blood products used to treat hemophilia. Advances include screening of blood donors, lab testing of donated blood, and techniques to inactivate viruses in blood and blood products.

  • Receiving hepatitis A and B vaccines also decreases the risk for contracting these infections.

  • There has been some concern in the hemophilia community about Creutzfeldt-Jakob disease (CJD). CJD is a disorder related to bovine spongiform encephalopathy or "mad cow disease." CJD transmission is possible through blood-derived treatment products. However, transmission of CJD disease through blood or blood products has never been detected. The risk is considered extremely low. Unfortunately, there is no test to identify CJD in blood or blood donors.

  • To ensure absolute safety from infusion-transmitted viruses and other agents, people with hemophilia A may now be treated with factor VIII that has been produced through biotechnology. This product is called recombinant factor VIII. It is created by a process entirely free of blood products. It contains only the factor VIII needed to treat the disease. The cost of this product is more than that of the blood-derived product. However, it is the treatment of choice for those, such as newborns, who have not yet been exposed to blood products. A similar factor IX product is not yet available.

  • Development of antibodies (inhibitors) that can cause your body to destroy factor concentrates before they are able to work.

  • The development of inhibitors that block the activity of clotting factors can make treatment more difficult for some patients. About 20% to 30% of people with hemophilia A develop an inhibitor. About 1% to 4% of people with hemophilia B develop an inhibitor. When inhibitors are present in large amounts, the patient may need very high quantities of infused clotting factors to slow bleeding. In some cases, even this treatment may not be effective.

  • Factor VIII products produced through biotechnology have been found to cause inhibitors less often (in only about 5% of patients).

  • Damage to joints from treatment not being started soon enough.

  • The major cause of disability in hemophilia patients is chronic joint disease (arthropathy). This is caused by uncontrolled bleeding into the joints.

  • Life-threatening severe bleeding (hemorrhage).

  • Life-threatening hemorrhage is a constant risk. Traditional treatment of hemophilia has involved "on-demand" treatment. This means patients are treated with clotting factor infusions only after bleeding symptoms have begun. In some countries, patients are treated with regular infusion regardless of the person's bleeding status. This approach keeps the factor level high enough that bleeding, joint destruction, and life-threatening hemorrhage are almost entirely avoided. Disadvantages to this treatment approach include the need for frequent infusions, the need for almost continuous access to veins by catheters, and the considerable cost.

Let your caregiver know if you are considering a pregnancy. You need to be completely aware of the risks and your options.

SEEK IMMEDIATE MEDICAL CARE IF:

  • You develop any bleeding that is not controlled.

  • You develop a tender, swollen joint.