When blood does not clot - Hemophilia

Today is Rare Disease Day 2021 – we, SKC, want to do our part to generate more awareness for these diseases. This time for hemophilia.

Sat, 2021 / 02 / 27

Today is Rare Disease Day 2021! On this special and important occasion we'd like to share this final blog of our blogseries on rare diseases to make aware of hemophilia. Normally, it is not possible to directly see that one has hemophilia because, this rare disease is hidden in the blood. Due to a defect in the X chromosome, too few clotting factors are produced and bleedings are slow to stop.

Not only external injuries cause disproportionately strong and long bleedings, even without injuries so-called spontaneous bleedings can occur. Typical examples are hematomas, joint hemorrhages and other internal bleedings. It is not surprising that people suffering from hemophilia are constantly accompanied by fear. Everyday dangerous situations can occur, for example during sports, hobbies or physical work. Often, unrelated occurrences cause anxiety of bleeding. Meikel, who is diagnosed with this disease, writes in his blog:

"I was actually not feeling well, I felt weak, had zero-motivation phases and even when I ate, somehow nothing worked for me. I had retching and had to vomit and felt like my entire abdomen was cramping up. In fact, I was afraid that I would have extreme bleeding in my abdomen again, as I had many years ago."

Fortunately, it turned out that these were symptoms of his diabetes. Still, such deep fears are understandable and justified. The susceptibility to bleeding also worries friends and family of patients with hemophilia. In Anwar's case, hemophilia was inherited from his wife to their child. Like many women with hemophilia, she had no symptoms. The reason is that women, unlike men, have two X chromosomes and one can "compensate" the other one. As Anwar reports, they experience difficult everyday moments, "[...] like leaving the little one in kindergarten and always worrying if something will happen or if everything will go well."

In recent years, the situation for patients with hemophilia has changed a lot. There are modern communities, such as www.active-a.de, and new forms of therapy. Thanks to them, it is possible to get the disease well under control and live an almost normal life. The changes that have been realized over the last years through innovative medicines are exemplary for the progress that has been realized in the field of rare diseases. However, there remains much potential and need for research on innovative treatments for hemophilia and all other rare diseases.

For more information, please click here:

(1) The German Hemophilia Society provides information for patients as well as general information on the disease and its course.

(2) Besides Active-A, myHaemophilie is another community for people with hemophilia.

(3) The Interessengemeinschaft Hämophiler e.V. is an association with affected people, relatives, friends, supporters, physicians and scientists.