Hemophilia

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.

Someone 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.

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. Severe hemophilia is noticeable from a very young age: Babies bruise very easily. As the children learn to walk and put more strain on their joints and muscles, bleeding starts occurring there.

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 gene, it can't be overridden by a normal one, so hemophilia is more common in men.

Hemophilia affects about 2 out of 10,000 men. It is estimated that there are 10,000 men with hemophilia in Germany, about 3,000 to 5,000 of whom 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). Advanced stages of hemarthrosis can make it nearly impossible to move your 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 your thinking ability, concentration or sense of balance. Severe bleeding in the brain is life-threatening.

Bleeding inside organs, the abdominal cavity or in the mouth and throat area is also dangerous: In the throat area, for example, it can make it hard to breathe. Bleeding in the abdominal cavity can cause major blood loss and damage vital organs.

Hemophilia treatment involves the use of injections to replace the missing clotting factor. There are two main 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. This typically involves injecting the clotting factor every few days in order to lower the chances of bleeding. People who have hemophilia can learn to do this themselves if they are shown how to, and with a little practice.

Other medications to improve the blood's clotting ability are only used in milder forms of hemophilia. These include tranexamic acid and desmopressin. The hormone desmopressin releases clotting factors stored in the blood vessels.

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.

Hemophilia used to be associated with major limitations. Nowadays treatment with clotting factors makes it possible 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 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 are fun, strengthen the muscles and help to improve your body awareness and your sense of balance. So regular exercise and sports can prevent injuries that cause bleeding. Your doctor can help you decide which activities are suitable if you aren't sure.

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

The challenge for parents is to prevent bleeding in their children, but at the same time not be too overprotective. It's not easy to strike a good balance so that the child can grow up unburdened and as free as possible.

Parents manage their children's treatment for a long time, and support them emotionally too. As they grow older, most children start to take responsibility for the management of their condition. That isn't always easy, especially during puberty. Conflicts may arise if parents worry and have difficulty handing the control over to their children.

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, mainly including

• orthopedists,
• specialists in internal medicine,
• doctors who have specialized in blood clotting disorders, and
• pediatricians with special training in this area.

These specialists offer joint consultations. You can find a list of the hospitals in Germany that offer this specialized service on the ASV website.

People with hemophilia can turn to support groups and information centers for help and advice, too. Our list may help you to locate and make use of local offers.