Hemophilia is a rare disorder in which the blood does not clot normally because of a lack of proteins needed for blood to clot (clotting factors). If you have hemophilia, you may bleed longer after an injury than you would if your blood clotted normally.

Usually small cuts are not a big problem. If you have a severe deficiency of clotting factor proteins, the biggest health problem is bleeding deep inside your body, especially in your knees, ankles and elbows. This internal bleeding can damage organs and tissues, and may be life-threatening.

Hemophilia is a genetic disorder. Treatment includes regular replacement of the deficient specific clotting factor.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your level of clotting factors is a bit low, you may bleed only after an operation or trauma. If your deficiency is severe, you may develop spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include

Excessive, unexplained bleeding from cuts or injuries, or after surgical or dental procedures

Many large or deep bruises

Unusual bleeding after vaccination

Joint pain, swelling, or stiffness

blood in urine or stool

Nosebleeds for no known reason

Unexplained irritation and tightness in children

Brain hemorrhage

Minor head trauma can cause bleeding in the brain in some people with severe hemophilia. This happens rarely, but it is one of the most serious complications that can occur. Signs and symptoms include:

A persistent, painful headache

frequent vomiting

drowsiness or lethargy

double vision

Sudden weakness or imbalance

cramps or fits

When do you visit the doctor?

Seek emergency care if you or your child has any of the following

Signs or symptoms of a brain hemorrhage

In case of injury and the bleeding does not stop

Swelling in the joints, feeling hot when touched, and pain when bending it

If you have a family history of hemophilia, you may need to undergo genetic testing to see if you are a carrier of the disease before you start a family.

the reasons

When bleeding occurs, the body naturally brings blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles. Hemophilia occurs when you have a defect in one of these clotting factors.

There are many types of hemophilia, most of which are inherited forms. While, we find that about 30% of people with hemophilia do not have a family history of the disease. In these people, an unexpected change occurs in one of the genes related to hemophilia.

Acquired hemophilia is a rare change in a condition that occurs when a person''s immune system attacks the clotting factors in the blood. This can be associated with:

pregnancy

Autoimmune diseases.

cancer

Multiple Sclerosis

Hemophilia inheritance

In the most common types of hemophilia, the defective gene is located on the X chromosome. Each individual has two sex chromosomes, one from the father and one from the mother. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.

This means that hemophilia almost always occurs in males and is passed from mother to son through one of the mother''s genes. Most women with the defective gene are simply carriers of the trait and do not have any signs or symptoms of hemophilia. But some carriers may develop bleeding symptoms if their clotting factors are moderately low.

risk factors

The greatest risk factor for hemophilia is having family members with the disease.

Complications

Complications of hemophilia may include

Deep internal bleeding. Bleeding that occurs within the deep muscles can cause your limbs to swell. The tumor may press on nerves and cause numbness or pain.

joint damage Internal bleeding may also put pressure on your joints, causing you to feel severe pain. Untreated internal bleeding may lead to infection or joint destruction.

infection. People with hemophilia are more likely to have blood transfusions. This increases their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s because donated blood was tested for hepatitis C and HIV.

Adverse reaction to clotting factor therapy. In some people with severe hemophilia, the immune system has an adverse reaction to clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that stop clotting factors from being activated, making treatment less effective.