Hemophilia - Find a Doctor and Get Information

Hemophilia is an inherited disorder and a blood clotting disorder in which the blood clots much more slowly than it should. As a result, wounds take longer to heal. In hemophilia, the body produces insufficient amounts of clotting factors.

Clotting factors are proteins that ensure that blood that has leaked out clumps together (coagulates) quickly: Platelets (thrombocytes) normally stick together with the help of clotting factors and permanently seal the blood vessel. This brings the bleeding to a rapid halt.

Although hemophilia is not (yet) curable, it can already be effectively treated.

Medical professionals distinguish between the following types:

• Hemophilia A: Approximately 80% of patients have hemophilia A. Their bodies produce too little of clotting factor VIII.
• Hemophilia B: People with hemophilia B, on the other hand, have a factor IX deficiency.
• von Willebrand-Jürgens syndrome (vWS): It is significantly more common than the other two variants. Patients with vWS have too few functional von Willebrand factors (vWF).

This bleeding disorder occurs in several degrees of severity (mild, moderate, severe): Some patients may experience only mild post-injury bleeding from superficial wounds. Other patients, however, must expect significant 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 active. 
• Moderate and mild forms (up to 20% factor activity) occur in one out of every five patients with hemophilia A or B.

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

Blood clotting consists of two phases. In hemophilia, the second stage of blood clotting is impaired:

1. In the first phase, blood platelets normally aggregate (primary hemostasis). 
2. In the second phase, the bleeding wound normally seals itself.

For people with hemophilia, the wound can reopen at any time. As a result, even minor injuries can lead to significant blood loss in many affected individuals. The wound bleeds longer than usual. If left untreated, this can last for days.

Impaired wound healing becomes critical when bleeding occurs near joints or muscles. As a result, joint damage is a common complication of hemophilia.

Hemophilia A and B present with the same symptoms. The more severe the hemophilia, the more symptoms the patient experiences. 

Moderate forms of hemophilia often appear as early as infancy. Later on, bleeding into the joints causes severe pain and limits mobility. A severe form of hemophilia becomes apparent as soon as the child’s umbilical cord is cut: significant blood loss occurs.

Later on, children suffer from excessive nosebleeds and large bruises (hematomas) even from minor bumps. 

In some cases, bleeding can even occur in the head. If blood accumulates in the joints, it leads to premature osteoarthritis (joint wear). Blood in the muscle tissue often causes muscle weakness.

Bruises and hematomas under the skin are typical symptoms of hemophilia @ Alex Zegrachov /AdobeStock

A blood test can determine whether a patient has hemophilia. Specialists in this field include hematologists and hemophilia centers.

Babies from families with a history of hemophilia are screened shortly after birth. Pregnant women who suspect they may be carriers of hemophilia can undergo genetic testing.

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

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

The blood clotting factors needed for treatment are obtained from purified blood plasma or produced through genetic engineering. Patients learn how to administer these vital proteins to themselves via injection.

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

Treatment methods vary depending on the type and severity of the condition:

• In cases of mild to moderate hemophilia, doctors administer the factor concentrate only as needed, such as during a scheduled surgery or an acute bleeding episode.
• The person affected needs a pressure bandage immediately. The patient can stop minor bleeding on their own by pressing their finger against the wound.
• Severe cases of hemophilia require a factor VIII injection 2 to 3 times a week or—if the patient has hemophilia B—a factor IX injection 1 to 2 times a week. 
• Before tooth extractions, patients with mild hemophilia receive special treatment with desmopressin.
• One problem is that some people with hemophilia develop antibodies against the additional clotting factors they are given. This primarily affects patients with hemophilia A. In these patients, the inhibitory biochemical compounds are removed using immune tolerance therapy.
• Patients with von Willebrand-Jürgens syndrome receive vasopressin and factor VIII in concentrated form. 
• Female patients can increase vWF production with the help of estrogen-containing medications.