Hemophilia

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

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 best known are hemophilia A and hemophilia B. Both of these forms are 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 causes barely any symptoms on a daily basis. In many cases, it only becomes noticeable in puberty or adulthood, for example, 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 as a result of surgery or an injury. Only rarely is there 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 abdomen, throat or brain 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. Hemophilia is therefore 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 a person’s ability to think and concentrate and their sense of balance. Severe bleeding in the brain is life-threatening.

Other internal bleeding is also problematic – in the mouth and throat, it can cause breathing difficulties, while bleeding in the abdominal cavity can cause major blood loss. Bleeding in vital organs can damage them.

Hemophilia treatment involves replacing the missing clotting factor with injections. There are two different approaches.

On-demand treatment

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

• to stop active bleeding and
• before surgery or
• before extracting teeth, in order to limit blood loss.

Preventive treatment

If someone has severe hemophilia, preventive (prophylactic) treatment is usually recommended. The missing clotting factor is then 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 the potential benefits of preventive treatment for severe hemophilia, visit gesundheitsinformation.de.

Hemophilia used to be associated with major limitations. Nowadays, treatment with clotting factors makes it possible for those with hemophilia to do anything that doesn’t put great 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 how likely the person is to bleed and how well the treatment can be adjusted.

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.

With severe hemophilia in particular, it is helpful to inform loved ones and carers and to carry an emergency ID card at all times. It is also possible to allow details of the illness to be stored in the emergency data record on the electronic medical data card. 

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 specialists in internal medicine, orthopedics and 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 also turn to support groups and information centers for help and advice.