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Primarily Affects Men

What Lies Behind the Blood Disorder Hemophilia

Hemophilia is a bleeding disorder.
If bruises appear frequently even with minor bumps, it could be a sign of hemophilia, an inherited bleeding disorder. Photo: Getty Images

May 1, 2025, 9:15 am | Read time: 5 minutes

A bruise from tripping, a joint that hurts for no apparent reason — sometimes there’s more to it than just a harmless everyday injury. What many people don’t know is that such symptoms can indicate a rare, inherited condition that, if left untreated, can lead to severe internal damage. But who is at risk, and how can you recognize the warning signs early?

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Hemophilia is a genetic disorder that primarily affects men. It leads to impaired blood clotting, which can have life-threatening consequences. Early diagnosis and individualized therapies are crucial.

What Exactly Is Behind the Bleeding Disorder

Hemophilia, commonly referred to as a “bleeding disorder,” is a hereditary disease that leads to a disruption in blood clotting. The disease primarily occurs in men and results in the blood of affected patients not clotting or clotting very slowly. This can delay wound healing, prolong bleeding, and cause larger and more numerous bruises. There are mild, moderate, and severe forms of the disease. The latter can lead to spontaneous bleeding without visible wounds, persistent bleeding in areas such as the joints, and even life-threatening effects.

There are also different forms of hemophilia. The most well-known are hemophilia A and B. The prevalence of hemophilia A in men is estimated at about one in 5,000, while hemophilia B affects about one in 25,000 to 30,000 men.1

Typically, a complex interaction of clotting factors in the blood ensures that injuries are stopped. If these proteins are missing — due to a genetic disorder, for example — even a small cut can become problematic.

Spontaneous Bleeding and Large Hematomas

“If bruises become disproportionately large or spontaneous bleeding occurs in joints, one should be alert,” warns hematologist Prof. Johannes Oldenburg from the University Hospital Bonn.

If blood clots poorly, bleeding can also occur within the body. Internal bleeding can be triggered by a fall or a bruise, but can also occur without any apparent cause. It can damage organs, muscles, and joints.

The Three Severity Levels: From Mild to Threatening

Mild Hemophilia

In cases of mild hemophilia, people often have few symptoms in everyday life: the bleeding disorder often only becomes apparent in adolescence or adulthood when bleeding after surgery or injury lasts longer than usual.

Moderate Hemophilia

In moderate hemophilia, prolonged bleeding occurs occasionally — usually after injuries or surgical procedures. Spontaneous bleeding is rare.

Severe Hemophilia

In severe hemophilia, internal bleeding often occurs, which can be painful. Typically, it arises without an obvious trigger — especially in joints like the shoulder, hand, hip, knee, ankle, or elbow. Arm and leg muscles are also often affected. It becomes dangerous when bleeding occurs in the brain, abdominal, or throat area. The first signs usually appear in infancy: even minor bumps lead to noticeable hematomas in affected children. With the first steps, bleeding often occurs in stressed joints and muscles.2

Fact 1: Why Almost Only Men Are Affected

Hemophilia is an X-linked inherited disease, which is why men are significantly more affected than women. “These genes are located on the X chromosome,” explains the German Society for Transfusion Medicine and Immunohematology (DGTI). “Men have only one of them. This means that if such a gene defect is present, it becomes noticeable.”

The reason for this: While women have two X chromosomes, men have only one. If one of the two genes is defective in a woman, the healthy second gene can usually compensate for the defect — hence women rarely develop the disease. Without this backup in men, as is the case with a defective X chromosome, the genetic change has a direct effect — they are highly likely to develop hemophilia.

Fact 2: Joint Bleeding with Long-Term Consequences

Bleeding in muscles or joints occurs especially in severe forms. “Over time, the affected joints suffer damage,” says the DGTI, “they become deformed and stiff.”

Joint bleeding is usually very painful: the affected areas swell, often become inflamed, and restrict mobility. Particularly problematic is that once affected joints remain prone to recurrent bleeding. Repeated bleeding leads to what is known as hemarthrosis. This is progressive joint damage where the joint becomes permanently deformed, stiffens, and, in the worst case, is destroyed. In advanced cases, those affected often need walking aids or a wheelchair.

Larger muscle bleeds are also not without danger. They increase pressure on surrounding tissue, blood vessels, and nerves — which can lead to nerve damage. Rare but particularly threatening are internal brain bleeds: they can impair thinking, concentration, and balance or even be life-threatening. The same applies to bleeding in organs, the abdominal cavity, or the mouth and throat area — they can obstruct breathing, cause significant blood loss, and damage vital organs.3

More on the topic

Fact 3: Good Treatment Pptions — if Diagnosed Early

Thanks to modern therapies, many people with hemophilia can lead an almost normal life today — provided the bleeding disorder is diagnosed early. The DGTI points out: “This is at least the case if it is recognized in time.”

The standard therapy is based on replacing the missing clotting factor. Doctors inject the clotting factor directly into the vein — in mild forms only as needed, such as before a medical procedure or during acute bleeding, but in severe forms at regular intervals.

“Those with a severe form receive the clotting factor preventively every few days. After appropriate training, affected individuals can inject the substance themselves,” according to “gesund.bund.de.”

In addition, new therapy options are available today: “For several years, according to the DGTI, there has also been the possibility of treating hemophilia with antibody and gene therapies.” Which method is suitable in an individual case should be decided together with an experienced doctor.

*With material from dpa

This article is a machine translation of the original German version of FITBOOK and has been reviewed for accuracy and quality by a native speaker. For feedback, please contact us at info@fitbook.de.

Sources

  1. Paul-Ehrlich-Institut. Welttag der Hämophilie: Therapiemöglichkeiten der Bluterkrankheit. (accessed on 04.25) ↩︎
  2. Gesund.bund.de. Hämophilie. (accessed on 04.25.2025) ↩︎
  3. Gesundheitsinformation.de.Hämophilie (Bluterkrankheit). (accessed on 04.25.2025) ↩︎
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