Hemofilia: simptome, cauze, tratament, preventie - PlusMedical

Hemophilia is a hereditary disease that prevents proper blood clotting. This promotes spontaneous bleeding and exacerbates the bleeding caused by certain injuries, traumas or surgery. In people with haemophilia, the blood proteins that help to clot the blood are very low.

Proteins are known as factor VIII or IX, and the severity of hemophilia is determined by the amount of protein in this coagulation factor - this cat is lower, with both the risk of weighing and complications being more important.

Although hemophilia is usually a hereditary disorder, so inherited from parents - according to the World Federation of Hemophilia, one in 100,000 people is born with this disease - there are cases of hemophilia developed throughout life, especially among middle-aged people. or over 70 years of age, but may also occur in pregnant women (in the last trimester of pregnancy) or in women who have recently given birth.


The symptoms of haemophilia, no matter what type it is, depend on the level of the coagulation factor. The lower the level, the more diverse and more severe the symptoms. These can consist of:
Presence of blood in urine or faeces
Prominent bruises, which occur easily and sometimes for no reason
Nasal bleeding or oral cavity
Joint pain and bleeding, especially at the knees, elbows and ankles
Strong bleeding at the place of vaccination or circumcision
Headaches, vomiting, lethargy, behavioral changes, vision disorders, drowsiness, weakness, paralysis - these can be signs of a brain hemorrhage

The main cause of hemophilia is a mutation in a gene located on the X chromosome, which is supposed to stimulate the production of blood clotting factors. Males have an X chromosome and a Y chromosome - so XY -, while females have two X - so XX chromosomes. Men inherit X chromosome from mothers and Y chromosome from fathers, and women inherit one X chromosome from each parent.
However, there are cases when hemophilia can develop throughout life, as a result of a spontaneous genetic mutation or because of an autoimmune disorder, which causes abnormal reactions from the immune system - it "manufactures" antibodies that prevent the production of blood clotting factors. .
Acquired hemophilia may be caused by: pregnancy, cancer, multiple sclerosis, autoimmune disorders (diabetes, rheumatoid arthritis, celiac disease, Addison's disease, Crohn's disease, etc.).
Hemophilia can lead to complications such as: severe internal bleeding, arthritis, infections and other side effects caused by blood transfusions.
Careful! Hemophilia can often be confused with von Willebrand's disease, which is also a hereditary blood disorder that is similar to hemophilia (nasal or gingival bleeding, heavy menstruation). Unlike hemophilia, von Willebrand's disease affects women and men alike, but the symptoms depend, in both situations, on the level of coagulation factors - the lower it is, the more severe the manifestations.

The most effective treatment for hemophilia is to supplement the deficient coagulation factor with blood transfusions (only under medical supervision, in specialized centers) or periodic injections.
Hemophilia type A, for example, can be controlled by injections with desmopressin, a synthetic hormone that stimulates the production of coagulation factor VIII, thus preventing spontaneous or excessive bleeding.
In the case of type B haemophilia, the treatment consists of transfusions with fresh blood or blood derivatives produced synthetically, which contain the necessary coagulation factor. In 2013, the US Food and Drug Administration (FDA) approved a synthetic drug that contains a protein that is intended to prevent excessive bleeding by supplementing the production of coagulation factor IX.
Type C haemophilia is treated by the replacement of coagulation factor XI with the help of plasma infusion.
Joint pain is common in patients with haemophilia. Therefore, the doctor may recommend, when needed, certain pain relief medications, such as those based on acetaminophen, ibuprofen, paracetamol. Preparations that have stronger action are recommended only in severe and short-term cases, because they can addictive. The administration of aspirin, papaverine or indomethacin is contraindicated, as such substances may increase the risk of bleeding

Since hemophilia is a hereditary disorder, unfortunately, it cannot be prevented. However, if a woman decides to resort to in vitro fertilization, there is the possibility of embryo testing prior to implantation through PGD (pre-implantation genetic diagnosis) analysis, so that a genetic abnormality can be detected in time. Thus, the decision to implant only healthy embryos can be made, which does not have genetic defects.
Even though hemophilia cannot be prevented, there are measures that can be taken to minimize the risk of bleeding and protect the joints. These include:
Regular physical exercises (especially swimming, cycling, walking)
Maintaining dental hygiene, so as to avoid the appearance of dental problems that require major dental interventions (dental extractions)
Vaccination against hepatitis A and B
Avoiding certain drugs (aspirin, non-steroidal anti-inflammatory drugs, warfarin, heparin, clopidogrel, prasugrel, etc.)
Protecting joints and head with knees, ankles, and helmet respectively
Padding walls and furniture with sponges, to avoid strong hits

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