What is hemophilia?

Medically reviewed by Nancy Choi, M.D. onDecember 7, 2017 — Written by

Peter Crosta
 Causes
 Types
 Symptoms
 Diagnosis
 Treatment
 Living with hemophilia
Hemophilia is a rare condition in which the blood does not clot
properly. It mostly affects men.

Proteins called clotting factors work with platelets to stop bleeding at the site of
an injury. People with hemophilia produce lower amounts of either Factor VIII or
Factor IX than those without the condition. 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.
Causes

Share on Pintere st 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 defectTrusted Source 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.

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
percentTrusted Source 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 percentTrusted Source of normal
 clotting factor is considered mild, 1 to 5 percent is moderate, and less than 1
percent is severe.

What is hemophilia?
Medically reviewed by Nancy Choi, M.D. onDecember 7, 2017 — Written by Peter Crosta

 Causes
 Types
 Symptoms
 Diagnosis
 Treatment
 Living with hemophilia
Hemophilia is a rare condition in which the blood does not clot
properly. It mostly affects men.

Proteins called clotting factors work with platelets to stop bleeding at the site of
an injury. People with hemophilia produce lower amounts of either Factor VIII or
Factor IX than those without the condition. 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 20,000Trusted Source people living with hemophilia in
the United States.
Causes

Hemophilia is a blood clotting disorder.

Share on Pinter est
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 defectTrusted Source 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.
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
percentTrusted Source 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 percentTrusted Source of normal
clotting factor is considered mild, 1 to 5 percent is moderate, and less than 1
percent is severe.

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Symptoms

Hemophilia symptoms includeTrusted Source 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.

A person with hemophilia may experience internal bleeding in the brain following
a bump on the head.

Symptoms of brain bleeding can includeheadaches, vomiting, lethargy,

behavioral changes, clumsiness, vision problems, paralysis, and seizures.
Diagnosis

Blood testing is key to diagnosing hemophilia.

Share on Pinter est

Medical history and blood tests are key to diagnosing hemophilia.

If a person has bleeding problems, or if hemophilia is suspected, a physician will
ask about the person's family and personal medical history, as this can help to
identify the cause.

A physical examination will be carried out.

Blood tests can provide information about how long it takes for blood to clot, the
levels of clotting factors, and which clotting factors, if any, are missing.

Blood test results can identify the type of hemophilia and its severity.

For pregnant women who are carriers of hemophilia, doctors are able to test the
fetus for the condition after 10 weeks of pregnancy.

Treatment

Hemophilia is treated with replacement therapyTrusted Source.

This involves giving or replacing the clotting factors that are too low or missing in
a patient with the condition. Patients receive clotting factors by injection or
intravenously.

Clotting factor treatments for replacement therapy can be derived from human
blood, or they can be synthetically produced in a laboratory.

Synthetically produced factors are calledrecombinant clotting factors.

Recombinant clotting factors are now considered the treatment of choice

because they further reduce the risk of transmitting infections that are carried in
human blood.

Some patients will need regular replacement therapy in order to prevent

bleeding. This is called prophylactic therapy.

This is typically recommended for people with the severe forms of Hemophilia A.
Others receive demand therapy, a treatment that is given only after bleeding
begins and remains uncontrollable.

Complications from treatment of hemophilia are possible, such as developing

antibodies to treatments and viral infections from human clotting factors.

Damage to joints, muscles, and other body parts can occur if treatment is
delayed. Other treatments, for moderate forms of hemophilia A, include
desmopressin, a man-made hormone that stimulates the release of stored factor
VIII, and antifibrinolytic medicines that prevent clots from breaking down.

In 2013, the U.S. Food and Drug Administration (FDA) approvedTrusted

Source Rixubis, a purified protein created with recombinant DNA technology, for
patients with hemophilia B.

Rixubis, a lab produced blood factor IX, aims to prevent and control excessive
bleeding by replacing the clotting factor missing or in low levels in hemophilia B
patients.

In the future, gene therapies may be available. People who wish to join a clinical
trial can contact Trusted Sourcethe National Heart Lung and Blood Institute
(NHLBI).

Living with hemophilia

There is no way to cure hemophilia, but there are ways to reduce the risk of
excessive bleeding and to protect joints.

These include:

 regular exercise
 avoiding certain medications, such asaspirin, nonsteroidal anti-
inflammatory drugs, and heparin, which are blood thinners
 practicing good dental hygiene
As preventive treatment, a patient may receive regular injections of an
engineered version of clotting factor VIII for hemophilia A, or IX for hemophilia B.

The Centers for Disease Control and Prevention (CDC) recommendTrusted

Source regular testing for blood-borne infections like HIVand hepatitis, and
vaccination against hepatitis A and B. People with hemophilia who receive
donated blood products may be at risk of developing these diseases.

Hemophilia Treatment Centers (HTCs) are available for support. A CDC study of
3,000 people with hemophilia found that those who used a HTC were 40
percentTrusted Sourceless likely to die of a complication related to their
condition.

To protect against injuries that can cause bleeding, a person can wear padding.
Extra care is needed when participating in sports or high impact activities.