Hemophilia – Impaired Blood Clotting
The disease is inheritable and yet it hits most patients surprisingly – the speech is of “haemophilia”, popularly also called “haemophilia”. Due to a genetic defect, the affected person lacks a substance that causes the blood to clot. The result: wounds do not heal because the hemostasis takes too long or does not work. Even minor injuries can lead to extensive bleeding in the tissues and joints.
Hemophilia A and haemophilia B
About 80 percent of patients suffering from haemophilia A. In this variant, it lacks or lacks the blood coagulation factor VIII. In another form, haemophilia B, factor IX is affected. The complaints, however, are the same for both. How strongly the chronic suffering is pronounced, depends on the so-called residual activity of the coagulation factors. They are divided into four levels of severity, ranging from 0 to 50 percent. In the worst case, there will be uncontrollable bleeding that can be life-threatening for the patient.
Hemophilia is a hereditary disease
Hemophilia mainly affects men. The lack of blood coagulation factors in women is compensated by their second X chromosome. But that does not stop the danger to their sons. The mother remains carrier (conductor). About half of the male descendants inherit the disease via their mother. In rare cases, when the father is a haemophiliac and the mother is a cardiologist, the defective X chromosome leads to haemophilia even in the common daughter.
Rare, but especially dangerous, is acquired haemophilia. About 1.5 million cases of one million non-haemophiliacs spontaneously develop antibodies against the body’s own coagulation factors and thus an inhibitory haemophilia. Experts, therefore, assume that this affects about 150 patients per year in Germany. It remains to be noted, however, that the number of unreported cases is very high. The condition primarily occurs in pregnant women and patients over 50 years of age with autoimmune disease or cancer . In many cases, this form is not even recognized – and this has serious, sometimes fatal consequences for the patients.
Overall, as estimated by the World Federation of Hemophilia (WHF), there are 400,000 people living with blood worldwide, and around 8,000 in Germany alone. And only about 30 percent of haemophiliacs have this disease diagnosed.
Bleeding with serious consequences
In hemophilia patients, bleeding can occur in any tissue that is severely lined with veins. Even small vibrations lead to hematomas in the supporting joints such as the knee, ankle and hip. Young children between the ages of one and two are particularly vulnerable, as they often fall or bump in their first urge to move. The injuries not only cause severe pain, but can result in deformed joints and disability if not treated properly.
A constant risk is also spontaneous bleeding. They occur partly without direct cause, for example in the gastrointestinal tract and brain, or are triggered by surgical interventions, for example when pulling a tooth.
Replace the coagulation factor
The treatment of choice is to replace the missing or defective factor VIII or IX. Corresponding preparations are injected intravenously. Since the risk of injury in children is greater, they usually receive prophylactic treatment up to three times a week. Adult haemophilia patients administer the missing coagulation factor as needed. The affected people benefit greatly from medical progress. Today, they are treated more individually than before and can choose between different substances.
So-called plasma preparations are obtained from human blood. In addition, it is now possible to genetically engineer the factor VIII. While in the past some haemophiliacs have been infected with HIV and hepatitis via plasmatic products, genetically engineered recombinant products are virus-free. Thanks to the modern therapy options, it is possible for bloodlines to lead a relatively normal life – with little restrictions, of course: Dangerous sports with a high risk of injury and extreme physical stress remain taboo for them.