What is hemophilia?

What is hemophilia?

Hemophilia is a special congenital or genetic disease of the blood where excessive bleeding occurs. When it is cut somewhere in our body, the bleeding usually stops after a while due to normal blood clotting. But hemophilia patients continue to bleed for a long time. This is because the special proteins FVIII and FIX are required for blood clotting. Genes for these two factors are present in the human X chromosome.

It is known that Queen Victoria of the British royal family was the bearer of the hemophilia gene in the early nineteenth century. His son Leopold had hemophilia. And Princess Alice and Beatrice were carriers. It is a bleeding disease that continues for generations. Leopold's mother was very worried about him and kept him very safe. The boy died of a brain haemorrhage while playing. Later, due to the marital relationship of the queen's successors, the gene spread to the royal families of Europe and Russia. In 1952, Stephen Christmas of the same British royal family contracted a similar hemophilia-B disease. Hemophilia BK is called Christmas Disease after his name. Haemophilia was called Royal Disease at that time. This disease is now seen all over the world.

Whose is it? Why?

Boys are usually infected, and girls are carriers of the hemophilia gene. This is because in the language of science, it is called X-linked disease, which is passed on only through chromosomes. Boys have only one X chromosome that comes from the mother. So if a mother carries this defective gene in her X chromosome, her sons may be infected with hemophilia. Girl children can be carriers. In this case, due to a genetic defect, the blood clotting protein or factor (FVIII or FIX) is much lower than normal. So the patient is bleeding more and longer.

Family history is very important, it is important to know the history of the victim's own brother, cousin, uncle, grandfather. However, in 25% of cases, there may be no family history, which may be due to a new mutation.

Types and symptoms of hemophilia

There are usually two types. E.g.

Hemophilia A: Deficiency of FVIII

Hemophilia B: Deficiency of FIX

They are divided into three groups according to the severity of the disease and the level of the factor. Such as:

* Mild: Factor level> 5-40%. They do not have any symptoms. However, if it is cut or injured somewhere, there is extra bleeding.

* Medium: Factor level 1-5%. Occasionally there is bleeding in the muscles, bone joints and other tissues.

* Severe: Factor level <1%. Excessive bleeding may begin here without any injury. There may also be bleeding in the brain after birth. In addition, muscles, bone joints, especially the knees, elbows, and ankles can become swollen and painful. Swelling of the joint can cause severe pain. Bruise under the skin, bleeding gums can also be. In severe cases, the symptoms appear as a child.

In addition, tooth decay, circumcision, circumcision, any surgery or injury may cause excessive bleeding.

The main problem in hemophilia is swelling of the bones or joints which is called hemarthrosis / arthropathy. The same joint swells again and again to become the target joint. As a result, its effectiveness decreases. The patient's walking and movement is disrupted. At one point the joint's work may be completely disrupted.

Identification

After knowing the proper history and symptoms, it can be deduced from the blood screening test that the result of the test called APTT is higher. Hemophilia is then diagnosed by a specific factor test (Factor VIII or IX Assay). These tests are done in different government and private hospitals of the country. However, this identification facility is available in only a few institutions in the country which are inadequate compared to the demand.

Treatment

* Factor injection (FVIII or FIX concentrate replacement)

* Plasma circulation (Fresh frozen Plasma or cryoprecipitate)

* Especially in the field of blood circulation.

* Inhibitor or antibody detection and treatment of complications

First aid at home

* Rest the affected area and keep it elevated if possible.

* Hold the bleeding site.

* Quickly give ice or cold water.

* If there is pain, take paracetamol.

* Take to the hospital and seek the advice of a specialist.

Some important precautions: which patients must adhere to

* Protect from any kind of injury.

* Keep the child safe.

* Do not give intramuscular injections.

* Taking family history before surgery on boys

* Do not take pain medication without doctor's advice.

* Always keep ice in the house.