When there is bleeding in our body for any reason, cells, thrombocytes and coagulation factors in the vascular wall attack that area and cause the formation of clots and stop the bleeding. Hemophilia occurs as a result of congenital deficiency of coagulation factors involved in this mechanism. As a result, the bleeding does not stop, the clot does not form. There are two main types. Factor 8 deficiency is called Hemophilia A and factor 9 deficiency is called Hemophilia B.
Hemophilia is a genetic disease. Carrier genes are found in the mother, but generally males encounter this disease. However, it can also be seen in women as a result of genetic mutation, although it is rare. Secondary hemophilia may develop in people who develop antibodies against coagulation factors at advanced ages. Hemophilia is classified as mild, moderate and severe according to the level of factor deficiency. The age and severity of symptoms depend on the severity of the factor deficiency.
What are the signs and symptoms of hemophilia?
Mild hemophilia may not show symptoms for a long time. The diagnosis can be made if the bleeding does not stop for a long time after a serious injury or surgical intervention. Moderate and severe hemophilia show symptoms from infancy and even at birth. Severe intracranial bleeding may occur in the baby following the difficult birth. There may be severe bleeding from the navel, or bleeding that cannot be stopped for a long time following newborn circumcision may be the first symptom. It is noteworthy that there are abnormal bruises on the legs in a toddler or a toddler. In moderate to severe hemophilia, a light blow can cause severe bruising. The cause of bruising is bleeding into the skin and absence of clotting. In hemophilia, bleeding that is more serious and is very important is the bleeding into the joints and the bone. These are often; It is seen in the knee, shoulder and ankle. In the long term, recurrent intra-articular bleeding causes loss of function and disability in the joint. Recurrent and severe nosebleeds may also be the first symptom. The initial diagnosis of a patient with no symptoms may occur with excessive bleeding after tooth extraction or surgical procedure. Gastrointestinal bleeding is also common in patients with hemophilia. Sometimes, bleeding into the abdominal muscles can be detected in a patient presenting with severe abdominal pain.
How is hemophilia diagnosed?
Coagulation tests are performed on a patient who has an unusual bleeding or a history of frequent bleeding. Coagulation tests are classified as first and second-line tests. The simplest and ubiquitous tests are complete blood count, PT, PTT and factor levels. With these, the initial diagnosis can be made on a large scale.
What are inhibitors in hemophilia patients?
Inhibitors are antibodies against factors 8 and 9 in the blood. They may occur later in previously healthy individuals or patients with hemophilia. These substances prevent the factors from performing their normal function and cause bleeding and coagulation problems.
Treatment of hemophilia
- Patients with 5-30% of normal coagulation factors have mild hemophilia,
- Patients with 1-5% of normal coagulation factors moderate hemophilia,
- Patients with less than 1% of normal coagulation factors are grouped as severe hemophilia. Treatment of hemophilia is done according to the severity of the disease.
In the treatment of hemophilia, the missing factor is replaced by a new one. Factor concentrates are used for this. Factor concentrates are obtained from human blood using high technology. They are tested for infectious diseases. Treatment is performed periodically in severe and moderate patients as a preventive measure. It is also used in therapeutic doses at the time of bleeding. Preventive treatment is applied in the preparation period of the tooth extraction or surgical operation of the hemophilia patient. It has been observed that inhibitors may develop after a while in patients who take protective factors for a long time. Some patients are taught home treatment method so that they can use the drug themselves. Genetic research to correct the faulty gene in hemophilia continues at full speed.