Your Guide to Hemophilia: Treatments, Symptoms, and More

Medically Reviewed By Alana Biggers, M.D., MPH
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Hemophilia is a rare genetic disorder that limits the blood’s ability to clot. This condition can cause prolonged or excessive bleeding, which may occur spontaneously or following an injury or medical procedure. Hemophilia almost always occurs in males. Approximately 1 in 5,000 males are born with hemophilia, so the condition affects as many as 33,000 males in the United States.

The condition is usually inherited from parents who have hemophilia or who carry the abnormal gene. The gene prevents or limits the body’s ability to create blood proteins, called clotting factors or coagulation factors, which are required for normal clotting.

Read on to learn more about hemophilia, including hemophilia A and hemophilia B. This guide also includes information about symptoms, treatments, and diagnosis.

Sex and gender exist on a spectrum. This article uses the terms “female” and/or “male” to refer to sex that was assigned at birth. 

Learn more about the difference between sex and gender here.

What is hemophilia?

Hemophilia is a bleeding disorder wherein blood does not properly clot. If you have hemophilia, you may experience spontaneous bleeding, and your blood may not be able to clot if you bleed following surgery or from an injury.

As hemophilia is hereditary, most people with hemophilia receive a diagnosis before a serious bleeding event occurs. Laboratory testing can confirm the diagnosis of hemophilia.

There are two types of hemophilia. These are hemophilia A and hemophilia B.

What is hemophilia A?

Hemophilia A, also called classic hemophilia or factor VIII deficiency, occurs as a result of missing or malfunctioning clotting protein known as factor VIII. It is often inherited, though around one-third of people with hemophilia A have no known previous family history.

Hemophilia A affects around 12 in 1,000 males in the U.S. Around 400 males are born each year with the condition. It is four times more common than hemophilia B.

What is hemophilia B?

Hemophilia B occurs when clotting protein factor IX is missing or malfunctioning. It is also called factor IX deficiency or Christmas disease.

As with hemophilia A, hemophilia B is a genetic disorder. Around one-third of cases also occur as a result of spontaneous changes in a gene.

Learn more about blood disorders here.

What are the symptoms of hemophilia?

Symptoms of hemophilia include excessive bleeding that may occur spontaneously or following an injury or surgery. You may also experience prolonged external bleeding in the mouth or nose following a cut on the skin.

Hemophilia symptoms can differ for each person, but common symptoms may include:

  • bleeding into joints, particularly the knees, ankles, and elbows
  • bleeding into the skin, or bruising
  • bleeding into the soft tissue or muscle, with buildups known as hematoma
  • bleeding of the mouth and gums
  • bleeding after getting a vaccination
  • blood in urine or stool
  • frequent nosebleeds that are hard to stop

As hemophilia is often inherited, you may be able to detect signs of the condition in an infant. Hemophilia may be present in an infant or young child:

  • if there is prolonged bleeding following circumcision
  • if there is prolonged oozing of blood following heel sticks or after blood is drawn
  • if they have many bruises or unusual raised bruises
  • if they bleed from the mouth

Contact your doctor if you experience frequent spontaneous or prolonged bleeding.

How is hemophilia treated?

Treatment for hemophilia will depend on the type and severity of the condition. However, it typically involves:

  • replacing missing blood-clotting protein with clotting factor concentrate
  • injections of desmopressin to help release more clotting factor
  • physical therapy to heal damaged joints and encourage movement

If you have a small cut or scrape, you can treat it at home by applying pressure and using a bandage. If you experience small bleeds under the skin, you can treat this by applying ice or a cool compress to the affected area.

Clotting factor concentrate treatment

One of the main ways of treating hemophilia is to inject clotting factor concentrate into your veins. This replaces the missing blood-clotting protein.

The replacement clotting factor may come from donated human blood or it may be laboratory-grown. Replacement proteins from human blood are called plasma-derived factor concentrates. These factors undergo screening and treatment to check for any viruses and prevent the spread of any diseases.

Replacement proteins created in a laboratory are called recombinant factor concentrates. Medical professionals use DNA technology to genetically engineer them. Recombinant factor concentrates cannot spread any bloodborne viruses.

Learn more about blood clots here.

What causes hemophilia?

Hemophilia is a genetic condition. It occurs when there is a defect in the gene that regulates the body’s production of a blood-clotting protein, or clotting factor. If there are changes in the gene, the body’s ability to produce the clotting factor will reduce, or it may be absent.

The gene for hemophilia is located on the X chromosome. Males have one X and one Y chromosome, and females have two X chromosomes. If a male has the altered gene on their single X chromosome, they will have hemophilia. Hemophilia is less common in females, because they must have the altered gene on both X chromosomes to get the condition.

A female with the altered gene on only one X chromosome is a carrier of the hemophilia gene. A carrier has a 50% of passing the altered gene onto the male child. There is also the same chance that the child will receive the unaffected X chromosome.

How is hemophilia diagnosed?

If your doctor suspects that you might have hemophilia, it is likely that they will arrange for tests at a hemophilia treatment center (HTC).

At the HTC, a hematologist will ask questions about your family medical history to determine if there is a chance that you have inherited hemophilia. They will then order a coagulation factor test to evaluate clotting time and to determine how well your blood is able to clot.

During a coagulation factor test, the hematologist will take a blood sample from your arm. They will then do a complete blood count test and screening coagulation tests. Screening coagulation tests can measure how long it takes your blood to clot.

Find out more about blood tests here.

When should I contact a doctor?

Contact your doctor if you experience frequent periods of spontaneous bleeding, or if you find that your body takes a while to stop bleeding after you have a cut or injury.

If you have a family history of hemophilia, contact your doctor to discuss testing for the condition too.

What are the risk factors for hemophilia?

The greatest risk factor for hemophilia is heredity. Males inherit the X chromosome from their biological mother. This means that there is a 50% chance you will have hemophilia if your biological mother is a carrier of the condition.

Females inherit one X chromosome from each biological parent. Both chromosomes would need to be altered in order for the female to have hemophilia, which means that both parents would need to either have or be a carrier of hemophilia.

You are much more likely to have hemophilia if you are male.

What are the complications of hemophilia?

The most common complication of hemophilia is bleeding in the joints. This can result in hemophilic arthropathy, or permanent and irreversible joint damage.

Other complications of hemophilia include:

  • development of inhibitors, which is an antibody that prevents clotting factors from being able to clot blood and stop bleeding, affecting around 15–20% of people with hemophilia
  • iliopsoas bleeds, which is bleeding into the muscles that control upper thigh movement
  • retropharyngeal bleed, or bleeding in the back of the throat
  • hypovolemic shock, where excess blood loss prevents the heart from pumping blood properly
  • bleeding in the skull, which is a life threatening condition

It is important to begin treatment for hemophilia as soon as possible to reduce the risk of damage to the joints and to prevent life threatening complications from occurring.

Other frequently asked questions

The following are some commonly asked questions about hemophilia.

Who discovered hemophilia?

In 1803, a physician from Philadelphia called John Conrad Otto first recognized that there was a hemorrhagic bleeding condition that mostly affected males. In 1828, University of Zurich student Friedrich Hopff coined the term “haemorrhaphilia” which later became the shorter “hemophilia.”

Why is hemophilia called the royal disease?

If you hear hemophilia referred to as the “royal disease,” this is because it affected British, German, Russian, and Spanish royal families in the 19th and 20th centuries.

How long is the average life span of a person with hemophilia?

The average life expectancy for an individual with hemophilia is similar to that of the general population.

For example, a 2020 study of males with hemophilia in the Netherlands found that the median life expectancy was 77 years, which compares to the 83 years of the general Dutch male population. Advances in medicine over the past 45 years mean that death rates for hemophilia have decreased.

At what age do symptoms of hemophilia appear?

Most people with hemophilia in the U.S. receive a diagnosis at around 36 months old for mild hemophilia, 8 months for moderate hemophilia, and 1 month for severe hemophilia.


Hemophilia is a rare condition where your blood is unable to clot properly. You will typically inherit the condition, though in some cases it occurs as a result of an altered gene.

If you have hemophilia, you can bleed spontaneously, and you may find that you bleed excessively after surgery or if you experience an injury. You can treat small cuts at home with bandages, but you will likely require medication to treat the condition long term.

Contact your doctor if you find that you bleed spontaneously or excessively, or if you have a family history of hemophilia.

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Medical Reviewer: Alana Biggers, M.D., MPH
Last Review Date: 2022 May 30
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