Hemophilia

Hemophilia is also commonly known as “bleeder’s disease”. People affected with hemophilia have problems with blood clotting. Their blood clots (coagulates) much more slowly than with other people. As a result, wounds take more time to heal.

Hemophilia can lead to bleeding inside the body too. This internal bleeding is for instance caused by a fall or a crush injury. Sometimes there’s no clear cause, though. Internal bleeding may damage organs, muscle tissue or joints.

Hemophilia is an umbrella term for several different diseases. The most well-known are hemophilia A and hemophilia B. Each form is caused by the lack of a particular protein in the blood that helps it to clot:

People with hemophilia A don’t have clotting factor VIII, while people who have hemophilia B lack clotting factor IX. Hemophilia A is more common.

There are three levels of severity in hemophilia, depending on the likelihood of bleeding:

Mild hemophilia often hardly causes any problems in everyday life. In many cases it only becomes noticeable in puberty or adulthood when bleeding after surgery or a deep cut lasts longer than normal.

People with moderate hemophilia may have occasional long-lasting bleeding, but usually only following surgery or an injury. Only rarely will there be no apparent cause for the bleeding.

People who have severe hemophilia often have internal bleeding that causes pain. Bleeding for no known reason is typical, especially in the joints of the hand, shoulder, hip, knee, ankle or elbow.

Arm and leg muscles are often affected too. Bleeding in the brain, throat or abdomen is especially dangerous.

Bleeding in joints is very painful. The joints become swollen and hurt when moved. They often become inflamed as well.

Hemophilia is usually inherited. It is caused by the lack of a clotting factor in the blood. This is almost always due to a defect in the gene for the clotting factor.

There are usually two copies of each gene. The genes for the clotting factors are on the X chromosome. The cells in women’s bodies contain two X chromosomes, whereas the cells in men’s bodies only contain one.

So if a woman has a defective gene on one of her X chromosomes, having a normal gene on the other X chromosome can usually prevent any blood clotting problems. It’s very rare for both genes to be defective in women.

But if a man has a defective clotting factor gene, it can’t be overridden by a normal one, so hemophilia is more common in men.

Around 2 out of every 10,000 men have hemophilia. There are approximately 10,000 men with hemophilia in Germany. About 3,000 to 5,000 of them have a severe form of the disease.

A joint that has already been affected by internal bleeding is likely to be affected again. Recurrent bleeding can deform a joint, stiffening and slowly destroying it (hemarthrosis).

Some people with advanced stages of hemarthrosis can find it nearly impossible to move their arms or legs, and a wheelchair or other mobility aid may then be needed.

Major bleeding into muscle tissue increases the pressure on surrounding tissue, blood vessels and nerves. That can damage the nerves.

Internal bleeding in the brain is rare, but it can impair people’s thinking ability, concentration or sense of balance. Severe bleeding in the brain is life-threatening.

Other internal bleeding is also problematic: in the throat area, it can make it hard to breathe. Bleeding in the abdominal cavity can cause major blood loss. Bleeding in vital organs can damage them.

Hemophilia treatment involves the use of injections to replace the missing clotting factor. There are two different approaches:

In on-demand treatment, the missing clotting factor is injected only when needed, for instance

• to stop active bleeding, or
• before a medical procedure such as surgery or the pulling of teeth, in order to limit blood loss.

If someone has severe hemophilia, preventive (prophylactic) treatment is usually recommended. In these cases, the missing clotting factor is administered on a regular basis.

The active substance is injected intravenously every few days to reduce the bleeding tendency. People who have hemophilia can learn to do this themselves if they are shown how to, and with a little practice.

Sometimes other medications are used as well. For instance, painkillers can be used to treat severe pain. Painkillers that don’t affect blood coagulation, such as ibuprofen, are suitable for this purpose. Acetylsalicylic acid (the drug in medications like Aspirin) is not suitable because it increases the risk of bleeding.

For more detailed information, such as whether preventive treatment can be of benefit for severe hemophilia, visit gesundheitsinformation.de.

Hemophilia used to be associated with major limitations. Nowadays treatment with clotting factors makes it possible for those affected to do anything that doesn’t put too much strain on the joints or involve a high risk of injury.

That even includes sports with a lot of physical contact, mountain biking or skiing, and jobs that involve manual labor. The possibilities will mainly depend on the severity of the hemophilia or how likely the person affected is to bleed and how well the treatment can be adjusted.

People who have hemophilia would like to live a normal life and enjoy their free time just as much as anyone else.

Physical activities strengthen people’s muscles, make them flexible, help to improve their body awareness and their sense of balance. So regular exercise and sports can prevent injuries that cause bleeding.

Even though treatment is available, living with hemophilia still involves challenges and requires adjustments in everyday life. It takes practice and patience for people to successfully inject the medication themselves.

But especially children who have severe hemophilia often learn at an early age to manage their disease and know what to do when they have acute bleeding.

There are various specialized hemophilia centers in Germany, with a focus on the treatment of this disease. Many of these centers offer psychosocial support to help children, teenagers, parents and other adults to manage the disease.

As of 2019 people with hemophilia can make use of a specialized outpatient care service (“ambulante spezialfachärztliche Versorgung” or ASV), where various types of specialists in a hospital work together and offer consultations. The main team includes orthopedists, specialists in internal medicine and doctors who have specialized in blood clotting disorders (transfusion medicine specialists).

Children and teenagers will also see a pediatrician with special training in this area. There is a list of all ASV outpatient care service centers on the ASV service center website.

People with hemophilia can turn to support groups and information centers for help and advice, too.