Understanding Hemophilia -- Diagnosis and Treatment

How Do I Know if I Have Hemophilia?

Normally, when bleeding begins, a complex series of chemical events produces a "plug" to stop the bleeding; this plug is called a fibrin clot. The fibrin clot is the end-product of many different "clotting factors" reacting in the blood. Hemophilia is an inherited condition in which one of these clotting factors (mainly factor VIII or IX) is absent from the blood, so that it does not clot normally. If your health care provider suspects that you have hemophilia, you may be given blood tests to examine how well your blood creates this clot. A lab mixes your blood with specific chemicals in a test tube, to produce a fibrin clot. If such tests are abnormal, other blood tests are done to determine the amounts of factors VIII and IX in the blood. These tests help doctors diagnose the type of hemophilia and its severity.

What Are the Treatments for Hemophilia?

Treatments for hemophilia include:

• Receiving clotting factors replacement therapy
• Medication
• Treatment for joint bleeding and other problems associated with hemophilia

The treatments you need will depend on the type of hemophilia and the severity of hemophilia. For instance, if you have mild hemophilia, you may need treatment only when you've been injured or in preparation for surgery. However, if you have severe hemophilia and bleed frequently, you may need regular treatment to help prevent bleeding and help protect your joints from deformity and disability.

Clotting Factors for Hemophilia

People with hemophilia receive the appropriate clotting factor (factor VIII or factor IX). Factor VIII replacement is used to treat hemophilia A and Factor IX is used in the treatment of hemophilia B. The clotting factor is given intravenously (through a needle in your vein) to stop or prevent bleeding. Factor preparations come from two sources:

• Donated blood plasma
• Synthetic (DNA-derived)

Newer types of these clotting factor products have been developed so they can last longer in the body. This means that they do not have to be used as often. Other medicines have also been developed to work with the clotting factors to stop bleeding.

Emicizumab-kxwh (HEMLIBRA) is a medicine that can help prevent or reduce the frequency of bleeding episodes in adults and children with hemophilia A. It works by bridging the gap in the clotting factors left by the missing factor VIII. This medication is given as a weekly, under-the-skin (subcutaneous) injection. A health care provider can give the injection, or you can learn to do it yourself.

Adynovate is used to replace clotting factor VIII to help prevent and control bleeding in adults and children with hemophilia A.

Idelvion, Coagulation Factor IX (Recombinant), albumin fusion protein is used to help control and prevent bleeding in children and adults with hemophilia B. Delivered by IV, Idelvion can be effective for up to two weeks and is delivered either as needed to prevent bleeding episodes or to manage the frequency of bleeding episodes.

A form of clotting factor VIII derived from pigs called Obizur stops bleeding episodes in people with acquired hemophilia A. This rare, dangerous form of the disease is not inherited.

Acquired hemophilia A can be related to pregnancy, cancer, or the use of certain medications. However, no cause can be found in about half of the cases.

Other Medications for Hemophilia A

If you have a mild form of hemophilia, a medication called desmopressin (DDAVP) can temporarily increase the concentration of factor VIII in your blood. DDAVP can be given intravenously, through an injection, or in the form of nasal spray.

Antifibrinolytic medicines such as tranexamic acid and aminocaproic acid are oral medicines that are sometimes used with replacement therapy in certain situations to help keep blood clots from breaking down.

Treatment for Joint Bleeding and Other Problems

Other health issues associated with hemophilia may need to be addressed. The most common include:

• Treating bleeding joints
• Monitoring physical activities

For bleeding joints, you must get treatment with clotting factor to avoid joint damage. Your doctor may also recommend resting and icing the affected joint to decrease pain and swelling. As pain and swelling subsides, physical therapy may help you recover joint mobility and strength.

Monitoring physical activity may be necessary to prevent injury and internal bleeding. Your doctor will discuss the types of physical activities that are appropriate and what kinds of activities may be too dangerous. Your doctor's advice depends on the type and severity of hemophilia.

Possible Complications from Hemophilia Treatment

Complications from treatment for hemophilia include:

• Acquiring a blood-borne disease
• Changes to the immune system that make the treatment less effective

Acquiring a blood-borne disease: In the past, people receiving clotting factor from donated blood ran the risk of contracting a blood-borne disease. In fact, in the late 1970s and 1980s, many people with hemophilia acquired viruses such as HIV (the virus that causes AIDS) and hepatitis. Now, potential blood donors are carefully screened and all donated blood is tested for viruses. Donated blood is also processed to inactivate any unrecognized viruses. The chance of contracting any disease through treatment is now extremely low. Still, if you have hemophilia it is important for you to receive immunizations for hepatitis A and B to help prevent becoming infected with these viruses.

Changes to the immune system: Your immune system may begin to recognize the administered clotting factor as foreign and then destroy it. This makes your treatment ineffective. Your doctor will want to monitor your (or your child's) blood for such a reaction.

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