What is hemophilia and how to live with it

What is hemophilia

Hemophilia is a genetic disorder in which a person's blood clotting is impaired. This is due to a failure in the synthesis of specific proteins, or clotting factors. Scientists number them with Roman numerals from I to XII. The disease occurs only due to the lack of two specific factors, therefore, there are two types of hemophilia Hemophilia / U. S. National Library of Medicine:

A - in the blood less than 50% of the norm of factor VIII;
B - the content of factor IX is below 50%.

Where does hemophilia come from?

It is usually inherited by Hemophilia / Mayo Clinic through sex chromosomes, which are XX in women and XY in men. The boy receives Y from his father, and X from his mother. The girl from both parents - two X-chromosomes. The defective hemophilia gene is found on one X chromosome but is suppressed on the other. Therefore, in women, the disease does not manifest itself, but the mother can pass it on to her son.

In about 30% of people, hemophilia is the result of a spontaneous mutation of the Hemophilia / Mayo Clinic genes, not heredity. Even less common is the acquired form of the disease, which appears due to immune disorders. They can be provoked by:

pregnancy;
autoimmune diseases;
cancer;
multiple sclerosis.

What are the symptoms of hemophilia

The manifestations of the disease depend on the Hemophilia / Mayo Clinic on how much VIII or IX clotting factor is lacking. The main symptom is unusually heavy or sudden bleeding that is very difficult to stop. It can appear in the following cases:

due to a cut, surgery, or tooth extraction;
as a result of a blow to soft tissues;
after vaccination.

Sometimes there are sudden bleeding in the joints, because of which they are very painful and poorly move. Some people may have blood in their urine and stool. And young children with hemophilia are often inexplicably irritable.

Why is hemophilia dangerous?

It can lead to life-threatening complications. This is usually the Hemophilia / Mayo Clinic:

Brain hemorrhage. Severe headache, vomiting, drowsiness or lethargy, convulsions appear; double vision. Sometimes a person loses consciousness.
Deep muscle bleeding. Blood collects between the layers of muscles and compresses the nerves, which can make your limbs feel numb or sore.
Joint damage. They will often collect blood, which will lead to the destruction of cartilage and the development of arthritis. In some cases, a Hemophilia A / Medscape cyst may appear. Irreversible deformation gradually occurs, and the joint ceases to be mobile.

Also, hemophilia sometimes requires blood transfusions. This increases the risk of contracting HIV and other viral infections.

How is hemophilia diagnosed?

Usually, the first symptoms appear already in childhood. But if a person knows that men in his family were sick with hemophilia, then he can turn to a therapist for examination. To confirm or deny the diagnosis, the doctor will prescribe Diagnosis of Hemophilia / Centers for Disease Control and Prevention:

General blood analysis. Check the hemoglobin level, platelet and red blood cell count.
Activated partial thromboplastin time (APTT). The indicator is measured in seconds and reflects how quickly the blood clots. With a lack of VIII, IX, XI and XII clotting factors, APTT becomes more than normal.
Prothrombin time. It also shows how quickly the blood coagulates, but reflects the concentration of I, II, V, VII and X coagulation factors. Therefore, in people with hemophilia, this test is normal, and it is done to find all possible causes of bleeding.
Fibrinogen. This protein is a coagulation factor I and is responsible for the formation of blood clots. In hemophilia, the test does not deviate from the norm, and if the level of fibrinogen changes, the doctor will suspect another disease.
Study of coagulation factors. The analysis shows the level of VIII and IX factors in the blood and reflects the type and severity of the disease.

How is hemophilia treated?

It is impossible to get rid of the disease, but to avoid complications, doctors prescribe supportive treatment. It should improve blood clotting. To do this, use the Hemophilia / Mayo Clinic:

Clotting factors. Proteins obtained from donated blood or synthesized in the laboratory, which are administered on a schedule to a patient with hemophilia.
The hormone desmopressin. In mild forms of the disease, it stimulates the synthesis of its own coagulating proteins.
Fibrin sealants. They are applied to wounds and cuts to stop bleeding.
Clotting drugs. They help prevent the breakdown of blood clots.

If your joints are damaged, your doctor will prescribe physical therapy. And if there was severe internal bleeding, then surgery may be required.

Also, all people with hemophilia are advised to be vaccinated against hepatitis A and B to reduce the possibility of infection through blood transfusions.

How to live with hemophilia

To reduce the risks associated with disease, doctors recommend Hemophilia / Mayo Clinic:

Choose the right sport. Avoid traumatic activities such as martial arts, hockey, or football. Swimming, cycling, or walking can help strengthen muscles and joints.
Do not take certain medications. Some over-the-counter pain relievers thin the blood and can make bleeding worse. For the same reason, anticoagulants are dangerous. Therefore, it is better to take medications after consulting a doctor.
Take care of the health of the oral cavity. It is recommended that you visit your dentist regularly and have your teeth treated on time to avoid removing them. Such an operation will lead to profuse hemorrhage.
Learn to stop minor bleeding. To do this, you need to put pressure on the wound or apply a tight bandage. Cool the injury with an ice pack.

If a child is diagnosed with hemophilia, parents may wear knee and elbow pads to prevent falls and joint bleeding. And at home it is better to remove furniture with sharp corners.