What is Hemophilia? What Causes Hemophilia?

What is Hemophilia? What Causes Hemophilia?

Hemophilia is a hereditary disease characterized by bleeding that does not stop and continues for a long time if the clotting mechanism in the blood is impaired. It is transmitted from parents to children through the gene. The disease can also develop later in life due to advancing age. People born with the disease have no or very little clotting factor. Clotting factor is a protein needed for normal blood clotting.

In the event of bleeding in the body of a healthy individual, blood cells clot to close the bleeding vessel end. However, disruptions in this mechanism can cause the blood not to clot. Bleeding can occur outside the body or as internal bleeding in cases such as trauma and impact. Such situations can lead to disability of the person with the disease, as well as fatal risks. Some individuals with the disease may need an injection of clotting factor or factors to stop bleeding.

What Causes Hemophilia?

Causes of hemophilia can include congenital absence or too little clotting factors in the child's blood. Clotting factors work together with blood cells called platelets (platelets, blood platelets) to control bleeding.
The disease is caused by genetic factors, i.e. it is inherited. In some rare cases, it can develop later. It can occur later in old age due to advancing age. It is more common in boys than in girls.
This is because the gene is gender-dependent and women are usually carriers. Daughters born to mothers without the disease and fathers with the disease are carriers. Boys are born healthy.
Rarely, girls are born with the disease. This may be possible if the father has the disease and the mother is a carrier.

What are the Symptoms of Hemophilia?

In mild cases, there may be no signs or symptoms for a long time. However, it can be detected when the person experiences very intense bleeding or bruising after a severe injury or fall.
Symptoms of hemophilia can be listed as follows:

  • Prolonged excessive bleeding after injury or surgery
  • Severe bleeding from the cut after a minor cut
  • Excessive bleeding in the gums
  • Inability to stop bleeding after tooth extraction
  • Unexplained and prolonged nosebleeds
  • Resumption of bleeding in the cut area after stopping
  • Bleeding in the joints (bleeding in the knee, elbow or other joints without an open wound can occur and is risky)
  • Bleeding that does not stop after circumcision
  • Intense and prolonged menstrual bleeding

What are the Types of Hemophilia?

There are two main types of hemophilia.

Hemophilia A: The most common type. The level of clotting factor 8 in the body is low or not enough in the blood. It is caused by a defect in the genes that produce the protein.

Hemophilia B: Clotting factor 9, which is necessary for clotting, is either too much or absent in the blood.

Methods of Diagnosis of Hemophilia

Hemophilia is diagnosed by a hematologist. The doctor asks a number of questions to learn the individual's history of the disease in detail. The presence of this disease in the family, symptoms such as excessive bruising and bleeding are examined and investigated.
Tests may also be ordered to determine the blood clotting status. These tests may include the prothrombin (PT) test and the partial thromboplastin time (PTT) test.
Blood tests are needed to determine the clotting factors in the blood. Depending on the test results, the type and severity of the disease is determined. These degrees can also be mild, moderate or severe.

Treatment of Hemophilia

Treatment of hemophilia depends on the degree and severity of the disease. The treatment of this disease, which is divided into mild, moderate and severe groups, requires the replacement of the deficient factor.
Factor concentrates are used to replace the missing factor. This process is tried to be obtained from the person's blood and performed with advanced technological methods. People may also be tested for the presence of other diseases and infectious diseases.
It is used in therapeutic doses during bleeding. Protective treatments can be applied during the preparation of patients for tooth extraction or surgery. It is seen that inhibitors can develop in patients who receive long-term protective factors.
For the treatment of the disease at home, some methods are taught to the patient and they are allowed to use the medicines themselves.

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CreatorNP Istanbul Hospital Editorial Board
Updated At05 March 2024
Created At22 December 2022
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