Hemophilia - Find a doctor and information

What is hemophilia?

Haemophilia (bleeding disorder) is a hereditary disease and blood clotting disorder in which the blood clots much more slowly than it should. This means that wounds take longer to heal. In haemophilia, the body produces too few blood clotting factors.

Coagulation factors are proteins that ensure that the blood flowing out quickly clots (coagulates): The blood platelets (thrombocytes) normally stick together with the help of the blood clotting factors and close the blood vessel permanently. This brings the bleeding to a rapid halt.

Although haemophilia is not (yet) curable, it is already easy to treat.

Types of haemophilia

Doctors distinguish between the following types:

• Haemophilia A: Approximately 80% of patients have haemophilia A. Their body produces too little coagulation factor VIII.
• Haemophilia B: Those affected by haemophilia B, on the other hand, suffer from a factor IX deficiency.
• Willebrand-Jürgens syndrome (vWS): This is much more common than the other two variants. Patients affected by vWS have too few functional von Willebrand factors (vWF).

Severity of hemophilia

The blood clotting disorder occurs in several degrees of severity (mild, moderate, severe): some patients may only experience slight bleeding after superficial injuries. Other patients, on the other hand, have to reckon with heavy blood loss.

• More than half of patients suffer from the severe form of hemophilia. In these patients, less than 5% of the factors are biologically effective.
• Moderate and milder forms (up to 20% factor activity) occur in one in five patients with haemophilia A or B.

Patients with a coagulation disorder have a normal life expectancy if they receive adequate and early treatment. However, they should avoid certain sports and occupations that involve a higher risk of injury.

The symptoms of haemophilia

Blood clotting consists of two phases. In haemophilia, the second stage of blood clotting is disturbed:

1. In the first phase, the platelets normally clump together (primary hemostasis).
2. In the second phase, the bleeding wound normally seals.

In bleeding patients, the wound can reopen at any time. This is why many sufferers experience high blood loss even with minor injuries. The wound bleeds for longer than usual. If left untreated, this can last for days.

Impaired wound healing is critical if the bleeding occurs near joints or muscles. Joint damage is therefore a common side effect of haemophilia.

Haemophilia A and B present with the same symptoms. The more severe the haemophilia, the more signs it shows.

Moderately severe haemophilia often occurs in infancy. Later, the bleeding into the joints causes severe pain and restricts mobility. A severe hemophilia is already evident when the umbilical cord of the child is cut: There is severe blood loss.

Later, the children suffer from excessive nosebleeds and extensive hematomas (bruising) if they only bump themselves slightly.

Sometimes there is even bleeding in the head. If the blood runs into the joints, this leads to premature arthrosis (joint wear and tear). Blood in the muscle tissue often causes muscle weakness.

Blue spots and bruising under the skin are typical symptoms of haemophilia @ Alex Zegrachov /AdobeStock

The diagnosis of haemophilia

A blood test shows whether a patient has haemophilia. Specialists in this field are haematologists and haemophilia centers.

Babies from families in which there are frequent cases of haemophilia are examined shortly after birth. Pregnant women who suspect that they are carriers of haemophilia can undergo a genetic test.

Causes of haemophilia

Women passon the blood disorder to their male children via one of their two X chromosomes. The inherited chromosome contains faulty information. As men only have one X chromosome, they cannot replace the defective X chromosome with the other intact X chromosome. This is why hemophilia mainly occurs in men.

The few women who are hemophiliacs either have a single X chromosome or they have two damaged X chromosomes. Women who only have a single X chromosome suffer from Turner syndrome or short stature. With two damaged X chromosomes, the father was a hemophiliac and the mother a carrier.

Treatment of haemophilia

The blood clotting factors required for treatment are obtained from purified blood plasma or produced by genetic engineering. Patients learn how to inject themselves with the vital protein substances.

Around 55 percent of blood is blood plasma, a clear and yellowish liquid @ arcyto /AdobeStock

The treatment methods differ depending on the type and severity:

• For mild and moderate haemophilia, doctors only administer the factor concentrate when necessary, for example during a planned operation or acute bleeding.
• The affected person needs a pressure bandage immediately. The haemophiliac stops minor bleeding themselves by pressing their finger on the injury.
• Severe cases of hemophilia require factor VIII injections 2 to 3 times a week or - if they suffer from hemophilia B - factor IX injections 1 to 2 times a week.
• Mild hemophilia patients are treated separately with desmopressin before tooth removal.
• The problem is that some hemophiliacs develop antibodies against the additionally administered coagulation factors. This mainly affects hemophilia A patients. In these patients, the inhibiting biochemical compounds are removed with the help of immunotolerance therapy.
• Patients with von Willebrand-Jürgens syndrome receive vasopressin and factor VIII in concentrated form.
• Female patients can increase the production of vWF with the help of oestrogen-containing drugs.