Frequently Asked Questions

WHAT IS HEMOPHILIA?

Hemophilia is a chronic disorder which means it is present at birth and affects someone throughout their life. In order for someone to stop bleeding after an injury, over 14 factors in the blood must interact to form a clot or scab. When someone has hemophilia, one of the factors necessary for blood clotting is either missing or inactive.

HOW DO YOU "GET" HEMOPHILIA?

Hemophilia is a genetic disorder which means that it is caused by an abnormal gene. It is what is called a sex-linked disorder because it is carried on the X chromosome. This means that women carry the disorder and pass it on to their sons who have the disorder, much like muscular dystrophy. In hemophilia there is about a 25-33% mutation rate; this means that in one of three of our new patients, there is no family history -- it is the first time the abnormal gene appears in the family. However, once the gene appears, it will be in the family forever.

ARE THERE DIFFERENT KINDS OF HEMOPHILIA?

There are several types of hemophilia. The two most common forms of hemophilia are Hemophilia A or Factor VIII Deficiency and Hemophilia B or Factor IX Deficiency. Hemophilia A is also called "Classic Hemophilia" or "The Disease of Kings" because it is the type that affected the royal families of Europe, most notably in Russia. Hemophilia B is also called "Christmas Disease," named for 10 year old Steven Christmas who was the first person diagnosed with this type of Hemophilia in 1952.  Both types of hemophilia vary in severity from mild, where bleeding problems are rare and usually only occur with trauma, to severe, where bleeding can be spontaneous and frequently occurs about once a week, although there is great variation.

WHEN YOU SAY BLEEDING, WHAT DO YOU MEAN?

People with hemophilia generally bleed longer, not faster. Bleeding is usually internal, often involving joints and muscles. For example, if someone with hemophilia bumps his knee, the injury is inside the joint and causes swelling and pain. You can't "see" the bleeding from the outside, but it is there and it can cause long term damage to joints resulting in chronic arthritis and limited movement of the joint. A severe injury, such as head trauma or internal bleeding, if untreated can lead to permanent disability and death.

HOW COMMON IS HEMOPHILIA?

The incidence is about 1 in 7,500 male births. There are currently about 20,000 people with hemophilia in the United States. This is about the same number as muscular dystrophy or cystic fibrosis. In Wisconsin, we have over 350 men with hemophilia -- men in almost every county in the State; Approximately 130 have the most severe form of the disorder and may require treatment to stop bleeding once to twice a week.

Remember, in addition to serving people with hemophilia, we also provide services for people with other types of bleeding disorders. For example, von Willebrand disease alone accounts for approximately 25% of our patient population. Forty-four of these people with von Willebrand disease, have a form so severe, as to cause symptoms similar to hemophilia.

IS THERE A CURE?

There is currently no cure for hemophilia, but significant research is being done into gene therapy, and we are optimistic that there will be a cure in the not too distant future, although no-one knows exactly when that will be. However, hemophilia can be successfully treated by infusing the missing or inactive clotting factor.

HOW IS THIS MISSING FACTOR GIVEN?

It is administered intravenously, which means that an IV needle is put in a vein, and the missing factor is injected. The whole process takes 20 - 30 minutes to do. At the hemophilia treatment centers, people are taught to do this at home or work or wherever they are so that their lives are not constantly disrupted with visits to hospital emergency rooms. Parents start infusing their children at as young as 2 or 3 years of age. As they get older children are taught to infuse themselves -- perhaps by age 10-14.

Guess the cost of treatment products for the following:
                            [Click on the answer you think is correct.]     

WHY IS TREATMENT SO EXPENSIVE?

We have all become aware over the last several years of the complications of blood products -- HIV, hepatitis and other viruses. A significant amount of research has gone into ways to make product safer. The latest and safest technology is genetically engineered and is called recombinant. On one hand, the research and technology costs drive up the cost of product. On the other hand, it decreases the complications and makes treatment safer -- which is very comforting to patients who infuse.

DOES THE FOUNDATION MAKE A DIFFERENCE?

YES!  In a way, the hemophilia community is lucky. Although treatment is expensive, it makes a significant difference in the quality of life of people with hemophilia. So many chronic illnesses are progressive, but in hemophilia if we can treat the bleeding and prevent the joint damage and other complications, the men can live relatively normal lives. It's most evident when we look at families with multiple generations of people with hemophilia.

• Grandpa may be in a wheelchair and unable to work because of his disability. He probably tells stories of spending his childhood in a hospital and in lots of pain. In the early years, Great Lakes Hemophilia Foundation functioned as both chapter and treatment center. He tells the story of when staff at the Great Lakes Hemophilia Foundation first taught him to self-infuse in his own home -- he was probably 40 or 45 at the time -- and couldn't believe the difference it made in his life.

• The nephew may have some knee or hip arthritis and some liver problems from exposure to hepatitis, but he is employed and may well have a family. He calls on the Great Lakes Hemophilia Foundation to help him with some medical expenses and keep him informed about advances in treatment, but he is pretty independent and self-sufficient.

• The grandchild looks like every other child his age and plays with the best of them. He may be on preventive infusions 3 times a week -- again expensive, but it keeps him looking, acting and feeling like all the other boys his age -- and we intend to keep him that way. He looks forward each summer to going to hemophilia camp, paid for by the Great Lakes Hemophilia Foundation, and hiking, biking, swimming, and camping with his friends.

With state of the art care and ongoing research, we can keep people in school, employed, out of hospitals and contributing to society. However, we can't to it without the help of our donors, volunteers and supporters.

If you would like to become a factor in the lives of people with hemophilia and enable them to live productive and normal lives, please contact the Great Lakes Hemophilia Foundation at 414/257-0200.

  Updated 5/05