Hemophilia Treated at Karmanos

Treatment of Hemophilia

What is hemophilia?

Hemophilia is a rare bleeding disorder where blood does not clot properly due to a lack of sufficient blood-clotting proteins (clotting factors). Blood clots prevent excessive bleeding. Due to the lack of blood-clotting proteins, patients with hemophilia may bleed for longer than usual after an injury or surgery or have spontaneous bleeding in joints.

Although minor cuts do not cause serious problems, concerns arise in severe cases. The most significant risk for individuals with hemophilia is internal bleeding, particularly around the knee, ankles and elbows. Internal bleeding can be life-threatening, causing damage to organs and tissues.

The two most common types of hemophilia are hemophilia A and hemophilia B. Both are considered genetic, inherited disorders and are therefore present at birth. Inherited hemophilia occurs in about 1 in every 5,000 male births. In the U.S., most people with hemophilia are diagnosed at a very young age. In rare cases, people may develop hemophilia later in life. This condition is more commonly diagnosed in men than in women. Treatment can depend on the type of hemophilia.

What are the types of hemophilia?

There are several types of hemophilia, although hemophilia A and B are the two most common types. Hemophilia A is four times more common than hemophilia B.

These hemophilia types include the following:

• Hemophilia A (classic hemophilia): This type of hemophilia is caused by a deficiency of clotting factor VIII (8) located on the X chromosome. This is the most common type of hemophilia and can be inherited from parents. It primarily affects males and can range from mild to severe. Hemophilia A can be caused by a spontaneous mutation. It is most often treated with factor VIII replacement therapy to help blood clots form correctly.
• Hemophilia B (Christmas disease): This type is caused by a deficiency of clotting factor IX (9). These mutations can be inherited from parents or occur spontaneously. It is most often treated with factor IX replacement therapy to help blood clots form correctly.
• Hemophilia C (Rosenthal syndrome): This is a very rare, often mild type caused by a deficiency of clotting factor XI (11). Hemophilia C causes less severe symptoms than other types, but treatment usually involves receiving donated plasma to help the blood clot.
• Acquired Hemophilia: Unlike the other types, this rare form of hemophilia is not hereditary. This is an autoimmune condition in which the immune system begins attacking proteins in the body that prevent blood clotting. More than 80% of patients are diagnosed at 65 years and older. Infections and some underlying health conditions seem to trigger the development of acquired hemophilia. These may include pregnancy, autoimmune conditions, cancer, and multiple sclerosis. Acquired hemophilia can also be associated with reactions to certain medications, such as penicillin, interferon, sulphonamides, phenytoin, and fludarabine.

What causes hemophilia?

Hemophilia is almost always caused by genetic mutations that affect the body’s ability to produce clotting factors. Hemophilia A is caused by a mutation in the factor VIII gene, while a mutation in factor IX causes hemophilia B. These mutations are typically inherited from a parent in an X-linked pattern.

In rare cases, hemophilia can occur due to spontaneous mutations, even in the absence of a known family history.

What are the signs of hemophilia?

The signs and symptoms of hemophilia vary, depending on the level of clotting factors. Signs of spontaneous bleeding may include:

• Blood in urine or stool.
• In infants, unexplained irritability.
• Large, deep bruises.
• Nosebleeds without apparent cause.
• Pain, swelling, or tightness in the joints.
• Unexplained or excessive bleeding from cuts or injuries, or after dental procedures.
• Unusual bleeding after vaccinations.

In severe cases of hemophilia, a simple bump on the head may cause bleeding in the brain. Although extremely rare, this can be one of the most serious complications. Other symptoms may include:

• Double vision.
• Lethargy.
• Painful, prolonged headache.
• Seizures or convulsions.
• Sudden weakness.
• Unexplained, repeated vomiting.

What are the risk factors for hemophilia?

The primary risk factor for hemophilia is having a family history of the disorder. Having a mother with the hemophilia gene or a father with hemophilia increases the risk. Men are also more likely to develop hemophilia than women.

How is hemophilia diagnosed?

Hemophilia is diagnosed through a combination of clinical evaluations, family history and laboratory testing. Diagnosis begins with blood tests to evaluate clotting. If abnormalities are present, specific assays measure clotting factor activity. A diagnosis of hemophilia A is confirmed by low factor VIII activity, while hemophilia B is diagnosed by low factor IX activity.

When a family history is known, genetic testing can be performed prenatally. Genetic testing is most used in women who are carriers of factor VIII or factor IX gene mutations. Genetic testing may also help identify individuals with mild forms of hemophilia A or B.

In the U.S., most inherited cases of hemophilia are diagnosed early in life. For mild hemophilia, the average age of diagnosis is 36 months, whereas in severe hemophilia, it is 1 month. In approximately two-thirds of babies diagnosed with the condition, there is a family history of hemophilia. In the remaining one-third of cases, with no known family history, the diagnosis is typically made after an unusual or unexpected bleeding event.

What are the treatment options for hemophilia?

The standard treatment for both hemophilia A and B is to replace the missing blood factor to allow blood to clot properly. One way to accomplish this is by infusing prepared clotting factor concentrates. Non-factor products given by injection are treatment options for both hemophilia A and B. These products decrease the risk of bleeding but do not treat an active bleed.

Health care providers may recommend these treatment approaches for:

• Episodic care: treats unexpected bleeding episodes.
• Prophylactic care: prevents bleeding episodes before they occur.

Providing these factor treatments at home can allow bleeds to be treated more quickly, resulting in less severe bleeding and fewer side effects.

Includes information about hemophilia, causes, risk factors, diagnosis and treatment.

Learn More: NIH

Learn More: CDC