Hemophilia: Causes, types, symptoms, and treatment

Hemophilia is a rare condition in which the blood does not clot properly. It mostly affects men.

People with hemophilia lack a protein called a clotting factor, which works with platelets to stop bleeding at the site of an injury.

This means the person tends to bleed for a longer time after an injury, and they are more susceptible to internal bleeding.

This bleeding can be fatal if it occurs within a vital organ such as the brain.

There are currently about 20,000 people living with hemophilia in the United States.

Causes

blood cells
Hemophilia is a blood clotting disorder.

In hemophilia, the blood does not clot as it should. Hemophilia is normally an inherited disorder. A person is born with it.

It happens because of a defect in one of the clotting factor genes on the X chromosome.

Hemophilia tends to occur in males, since the gene can be passed from mother to son.

Males typically lack a second X chromosome so they are unable to make up for the defective gene. Most females have XX sex chromosomes while most males have XY sex chromosomes.

Females may be carriers of hemophilia, but they are unlikely to have the disorder. For a girl to have hemophilia, she must have the abnormal gene on both of her X chromosomes, and this is very rare.

Sometimes, hemophilia is acquired because of a spontaneous genetic mutation.

The disorder can also develop if the body forms antibodies to clotting factors in the blood that then stop the clotting factors from working.

von Willebrand disease

von Willebrand disease (vWD) is another genetic bleeding disorder in which patients are prone to frequent bleeding such as nosebleeds, bleeding gums, and excessive menstrual periods.

It affects around 1 percent of the American population.

Unlike hemophilia, vWD affects men and women equally.Like hemophilia, the severity of vWD depends upon the level of the blood protein. The lower the level of protein in the blood, the more severe is the bleeding.

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Types

There are two major types of hemophilia, type A and type B.

In hemophilia A, there is a lack of clotting factor VIII. This accounts for about 80 percent of hemophilia cases. About 70 percent of people with hemophilia A have the severe form.

In hemophilia B, also known as “Christmas disease,” the person lacks clotting factor IX.
Hemophilia occurs in around 1 in every 20,000 males born worldwide.

Both A and B can be mild, moderate, or severe, depending on the amount of clotting factor that is in the blood. From 5 to 40 percent of normal clotting factor is considered mild, 1 to 5 percent is moderate, and less than 1 percent is severe.

Symptoms

Hemophilia symptoms include excessive bleeding and easy bruising. The severity of symptoms depends on how low the level of clotting factors is in the blood.

Bleeding can occur externally or internally.

Any wound, cut, bite, or dental injury can lead to excessive external bleeding.

Spontaneous nosebleeds are common.

There may be prolonged or continued bleeding after bleeding previously ceased.

Signs of excessive internal bleeding include blood in the urine or stools, and large, deep bruises.

Bleeding can also happen within joints, like knees and elbows, causing them to become swollen, hot to the touch, and painful to move.

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