Hemophilia is a bleeding disorder. It happens when your blood is low in clotting factors — proteins that help your blood clot. Normally when you’re bleeding, platelets gather at the cut or wound to form a clot. When you have hemophilia, the disease makes it harder for your body to form clots and stop the bleeding.
Hemophilia is almost always an inherited disease, meaning it’s passed down in families through genes. Almost all people with hemophilia are men. Women can have it in rare cases, but they’re much more likely to be carriers — meaning they carry the gene but don’t have any symptoms.
There’s currently no cure for hemophilia — but the good news is that treatments can help prevent bleeding episodes and allow people with hemophilia to live fuller, more active lives.
What Are the Symptoms of Hemophilia?
Symptoms of hemophilia can range from mild to severe, depending on the type. Mild symptoms include:
- Unusual or easy bruising and bleeding
- Bleeding that doesn’t stop after a serious injury or surgery
You may not notice these milder symptoms at first, especially if you don’t get injured often.
In more severe cases, hemophilia can cause internal bleeding in your joints and other parts of your body. Symptoms of more severe hemophilia disease include:
- Blood in your urine or stool (from internal bleeding)
- Large, unexplained bruises
- Spontaneous bleeding (bleeding for no obvious reason)
- Frequent nosebleeds that are hard to stop
- Bleeding in your mouth and gums, or excessive bleeding after losing a tooth
- Tight, swollen or painful joints — often in the knees, elbows and ankles
- Excessive bleeding from minor cuts or after getting a shot
Bleeding episodes from severe hemophilia can be a medical emergency. Get help right away if you have any of the following symptoms:
- Severe headache
- Repeated vomiting
- Neck pain
- Blurred or doubled vision
- Extreme sleepiness
- Continuous bleeding from an injury
What Causes Hemophilia?
Hemophilia is an inherited genetic condition, meaning it runs in families. It’s caused by a mutation in one of the genes that controls how your body makes clotting factors.
These genes are on the X chromosome. Women have two X chromosomes, but men only have one — so men are much more likely to have hemophilia. Women usually only have symptoms if they have two mutated genes, one from each parent. When women have just one mutated gene, they can carry the disease and pass it on, but don’t have symptoms themselves.
There are three main types of hemophilia, each caused by low levels of a different type of clotting factor (factor VIII, IX or XI):
- Hemophilia A (classic hemophilia) means you have a deficiency in factor VIII. This is the most common form of the condition, affecting about eight out of 10 people with hemophilia.
- Hemophilia B (Christmas disease) means you have a deficiency in factor IX. It’s named after Stephen Christmas, the first person diagnosed with this type in 1952.
- Hemophilia C means you have a deficiency in factor XI. This is the mildest form of hemophilia. Most people with this type have no symptoms and no problems with bleeding into joints and muscles.
There are also much rarer cases of non-inherited hemophilia (also called acquired hemophilia). Sometimes this happens in women during the late stages of pregnancy or just after giving birth. This can also happen when the immune system attacks clotting factors — usually from an autoimmune condition, cancer, multiple sclerosis or a drug reaction.
How Do Doctors Diagnose Hemophilia?
Your doctor can check for hemophilia with a blood test. They’ll take a small blood sample and measure the level of clotting factors in your blood. Then they’ll compare it to the normal levels of clotting factors to see how severe your hemophilia disease is. Here’s what different results mean:
- A normal level of clotting factor (for someone without hemophilia) is 50% to 100%.
- Mild hemophilia is a clotting factor level between 5% and 50%.
- Moderate hemophilia is a clotting factor level between 1% and 5%.
- Severe hemophilia is a clotting factor level less than 1%.
Sometimes people find out they have hemophilia after a serious injury or when they get routine blood work before a surgery. In other cases, doctors do screening tests before there are any symptoms.
If hemophilia runs in your family, you can talk with the doctor about your risk of passing it on to your children. Women can get genetic tests to see if they carry the mutated gene. And parents can also get their male children screened just after birth to see if they have the condition.
What Are the Treatments for Hemophilia?
There’s currently no cure for hemophilia, so people with this disease need life-long treatment.
The best way to treat hemophilia is to replace the missing blood clotting factor so that your blood can clot properly. You can get clotting factors from donated blood or from artificial versions made in a lab. You’ll need to get infusions of clotting factors into a vein.
Depending on the type and severity of hemophilia, your doctor may also prescribe a hormone medicine called desmopressin. This medicine helps stimulate blood clotting factors. You can take it as an injection, pill or nasal spray.
Experts recommend that people with hemophilia get treatment at a comprehensive hemophilia treatment center (HTC). These centers have specialists who can help people with hemophilia learn to manage their condition. You can learn how to perform infusions yourself — either to stop a bleeding episode as needed, or on a regular basis to prevent bleeding episodes.
Your Next Steps for Living with Hemophilia
Researchers and doctors have made good progress in treating hemophilia. People with this disease can now have a better quality of life and more independence.
Getting your prescribed infusions is the most important step in preventing bleeding. If you’re not already going to an HTC for your treatments, ask your doctor about finding an HTC near you.
But beyond the infusions, it’s important for people with hemophilia to avoid activities that raise their risk of accidents that could cause bleeding. For example, you may need to avoid contact sports like football or activities with a high risk of falls, like skiing.
But don’t worry — hemophilia doesn’t have to slow you down. There are plenty of other ways to keep active without putting yourself at risk. Activities like walking or swimming are great ways to stay fit and healthy when you have hemophilia.