Those affected lack certain factors in their blood that are responsible for clotting. Even a minor injury, a bump or an impact can trigger external or internal bleeding that is difficult to stop. In severe cases, spontaneous bleeding occurs. Haemophilia affects male children, women pass on the altered gene and only rarely develop the disease. In Switzerland, one in every 10,000 babies is born with hemophilia A and one in every 50,000 babies with hemophilia B. Thanks to medical research and science, which have made improved treatment possible, those affected can now lead an almost normal life. A potential cure is being investigated as part of gene therapy studies.
Overview: What is hemophilia
Haemophilia is also known as the disease of kings because this hereditary disease was more common among the European aristocracy as a result of the selective and close marriage policy. Queen Victoria’s family tree clearly shows how the genetic defect was passed down through the generations. The fate of the youngest and last son of the tsar, Alexei Nikolayevich Romanov, is well known. He had inherited the hereditary coagulation disorder through his mother, a granddaughter of Queen Victoria. His teachers were constantly under stress because their lively pupil was not allowed to romp around. One little bump and the boy was left with large bruises, stumbling and falling and suffering from pain due to muscle or joint bleeding.
If a healthy person falls, bumps into something or injures themselves, certain coagulation factors ensure that bleeding in the damaged fine vessels is quickly stopped again. Haemophilia patients lack these factors in their blood. Experts distinguish between two forms of hemophilia:
- Hemophilia A: This is the most common form of this hereditary disease, in which coagulation factor VIII is missing.
- Hemophilia B: A much rarer form in which factor IX is not present.
There are also other forms of blood clotting disorders, the most common of which is Von Willebrand syndrome. It concerns a factor called the Von Willebrand factor after its discoverer. Both men and women are affected by this genetic defect. Patients often have hardly any symptoms, which means that this form of coagulation disorder is rarely discovered.
Spontaneously acquired hemophilia is very rare; it occurs suddenly in previously healthy people because the body’s own antibodies block a clotting factor. The phenomenon affects both women and men and occurs more frequently at an older age.
Patients with congenital haemophilia can also develop antibodies, so-called inhibitors, against the coagulation factors administered, so that the therapy is no longer effective. Regular tests are therefore necessary and, if necessary, the therapy must be adjusted.
Hemophilia – Inheritance
Hemophilia is caused by an altered gene on the X chromosome, which means that certain clotting factors are not produced or are inactive. It is assumed that the majority of children inherit the altered gene from their parents and in 30-50% of cases the genetic alteration develops spontaneously.
Hemophilia is inherited recessively. The mutation is located on the X chromosome, of which women have two and men only one. Women inherit one X chromosome from their father and one from their mother – so in the case of this hereditary disease, they have one healthy X chromosome and one altered one. This explains why they can remain asymptomatic and still pass on the plant. Women are therefore carriers of hemophilia, in technical terms they are also called conductors (Latin conducere – to bring together).
Men only have one X chromosome and they get it from their mother – if they inherit the altered gene, they develop the disease. If they get the healthy X chromosome, they do not have the hereditary disease. This explains why not all sons of a woman with a hemophilia chromosome necessarily develop the disease.
Symptoms: Hemophilia
If your child develops unusually frequent bruises, so-called hematomas, even as an infant, this may be a sign of severe hemophilia. The symptoms of hemophilia usually become noticeable in childhood, usually when the child becomes more independent and active. Even minor bumps or injuries lead to major bleeding in the affected joints and surrounding tissue. This is associated with pain. The degree of hemophilia can vary:
- Mild hemophilia: Bleeding only occurs after provocation, during surgical procedures or at the dentist’s or after accidents.
- Moderate hemophilia: Even minor injuries cause bleeding.
- Severe hemophilia: Bleeding can also occur without a triggering cause, bleeding into the joints causes severe pain.
Small lacerations or abrasions are not noticeable at first because the blood platelets are intact in haemophilia and ensure that a small scab forms. However, if the wound is constantly bleeding from the inside, the scab tears again and again and the wound cannot close.
Hemophilia – Diagnosis with us
For diagnosis, we will ask you about the duration and form of the abnormalities. If there is already a family history of the disease, the probability of hemophilia is obvious. Bleeding into the joints or muscles in particular must be taken into account. This is because a joint that has bled once is susceptible to further episodes. As a result, the joint can change and inflammation can develop, leading to cartilage and later bone damage. In the course of time, inadequate treatment can lead to deformation and stiffening. Experts then speak of hemarthrosis. At worst, this can lead to immobility and even wheelchair dependency.
Thanks to medical advances, people with haemophilia can now live fairly unrestricted lives. Younger people in particular benefit from the scientific findings of preventive treatment, known as prophylaxis, and complain less about discomfort and pain than older people who have not had the benefit of modern therapies on an ongoing basis. In order to benefit from the latest findings, you would do well to contact a designated center (hemophilia center) if you suspect hemophilia. Diagnostics and therapy are carried out there at a high medical level and multidisciplinary cooperation in treatment is ensured.
Hemophilia – Clotting factors
Blood samples are analyzed to precisely determine the coagulation values and the activity of factors VIII or IX is quantified. The result of this examination, together with the complications, determines the further treatment. If it is known from family history that there have been cases of hemophilia, then a sample of the umbilical cord blood can be taken from the newborn in the delivery room and analyzed. In addition to the coagulation analysis, a hemophilia center will arrange for further examinations, such as genetic tests, which examine the underlying mutation and thus provide an indication of whether there is a risk of inhibitor hemophilia.
The activity of coagulation factors VIII or IX determines the classification of the severity of hemophilia. With normal blood coagulation, the activity of these factors is between 50 and 100 percent. Values above 5 percent indicate mild hemophilia, between 1 and 5 percent moderate hemophilia, and below 1 percent experts speak of severe hemophilia. However, the appearance and the resulting bleeding problems in the latter two overlap, so that some patients with moderate hemophilia also need prophylactic treatment.
Hemophilia - prevention, early detection, prognosis
If you have a family history of haemophilia, you should seek advice from a specialized center if you wish to have children. If your child has been diagnosed with this hereditary disease, you will face a challenge, but the therapeutic options available today will enable you and your child to enjoy a high quality of life. On the website of the Swiss Hemophilia Society (SHG), for example, you will find further help and support as well as the contact details of all hemophilia centers in Switzerland. In the case of severe hemophilia, parents or patients can learn to administer the missing clotting factors themselves. Haemophilia sufferers must be careful with painkillers; all medications containing acetysalicylic acid (ASA) or other anti-inflammatory drugs and painkillers that inhibit the function of blood platelets are taboo, as they lead to increased bleeding.
In Switzerland, people with hemophilia have their own emergency ID card, which your hemophilia center will be happy to issue. An emergency dose of the corresponding preparation and the contact persons in the event of an emergency are noted on it.