Patient education: Hemophilia (The Basics)

What is hemophilia? — 

This is a condition that keeps blood from clotting normally. If blood doesn't clot normally, people can bleed very easily or much more than normal. The bleeding can sometimes be life-threatening.

People with hemophilia have a change in a gene that makes a blood clotting protein. These proteins are also called "factors." The changed gene causes the body to not make enough of the factor.

There are 2 main types of hemophilia, depending on which gene is involved:

●Hemophilia A – The problem is in the gene for factor 8. The Roman numeral for 8 is VIII, and hemophilia A is also called "factor VIII deficiency."

●Hemophilia B – The problem is in the gene for factor 9. The Roman numeral for 9 is IX, and hemophilia B is also called "factor IX deficiency."

It is important to know whether you have hemophilia A or B, since the treatment is different. It is also important to know how much of the factor your body makes, since the bleeding risk is different.

Hemophilia is a life-long condition a person is born with. The changed gene can be passed from parents to their children. In some cases, the gene change can happen before a child is born, and the parents might not have hemophilia.

Severe hemophilia, when the body makes almost no factor, affects males. This is because the factor 8 and factor 9 genes are on the X chromosome, and males only get 1 X chromosome. Females can get hemophilia too, but it is usually milder. This is because females have 2 X chromosomes, and 1 of them makes a normal amount of the factor.

Females can be "carriers" of the gene and have mild hemophilia or normal factor levels. A female carrier can pass the gene on to their sons. Males can only pass the hemophilia gene on to their daughters. This is because males give an X chromosome to daughters and a Y chromosome to sons.

What are the symptoms of hemophilia? — 

Symptoms depend on how severe the hemophilia is. Severe hemophilia affects males.

●People with severe hemophilia bleed more than normal after an injury, procedure, or surgery. For example, a male baby might bleed much more than normal after being circumcised. (This means getting a procedure to remove the skin covering the tip of the penis.) Babies can also have injuries that cause bleeding when they learn to crawl or walk.

People with severe hemophilia can also have bleeding that happens for no reason. This is called "spontaneous bleeding." It often happens in a joint or muscle. The joints most often involved are the ankles, knees, and elbows. Blood in a joint can cause pain, swelling, stiffness, and trouble moving the joint. Over time, repeated bleeding in a joint can lead to long-term joint pain and damage.

Bleeding can also happen in the brain and other places. Bleeding in the brain is an emergency and needs to be treated right away (in the US and Canada, call 9-1-1).

●People with mild hemophilia can have bleeding after an injury, procedure, or surgery. They are less likely to have bleeding for no reason. They might not have bleeding when they are born and might only find out they have hemophilia when they are older.

Bleeding can cause different symptoms depending on where in the body it happens:

●Bleeding in a muscle or joint can cause pain and swelling.

●Bleeding in the intestines can cause blood in a bowel movement or belly pain.

●Bleeding in the kidneys can cause blood in the urine.

●Bleeding in the brain or spinal cord can cause severe headache and trouble moving.

Get medical help right away for any of these symptoms.

Is there a test for hemophilia? — 

Yes. Your doctor or nurse can check for hemophilia by doing different blood tests. These include tests to check blood clotting, tests to measure clotting factors, and gene tests.

If you have hemophilia, your doctor will probably recommend some of your close relatives have genetic testing. This can show if they have the changed gene, too. The results can help them know if they might need treatment and if they could have a child with hemophilia.

What if I am pregnant? — 

The hemophilia gene can be passed from a pregnant person to their baby. If you have a hemophilia gene, doctors can do a few things to help prevent problems:

●Do an ultrasound to find out the sex of your baby – This is because only a male baby would be at risk of having severe hemophilia. If the baby is male, doctors will avoid certain procedures during labor and delivery that could cause bleeding. In most cases, the baby is tested for hemophilia after birth.

●Prepare for a safe birth – Your doctor will test your clotting factor levels. This can help them avoid or prepare for procedures that might cause bleeding. Depending on your levels, you might also need treatment for bleeding during delivery or after the baby is born.

How is hemophilia treated? — 

Treatment depends on many things, including:

●What type of hemophilia you have (A or B)

●How severe the hemophilia is

●If you will have a procedure or surgery

●If you have frequent joint bleeds

●If you have an "inhibitor" – This is a protein your body makes against a clotting factor.

One treatment is to give the clotting factor that is low. The factor is given by "IV," which is a thin tube that goes into a vein. The clotting factor can be "purified" from human blood or made using cells grown in a lab. You can get factor therapy in the hospital, or you can give it to yourself (or have someone else give it to you) at home. Some people need to get an IV that stays in the body, called a "central line."

Factor therapy is used in 2 ways:

●To treat a bleed when it happens

●On a regular basis, to prevent bleeding

For people with hemophilia A, another treatment can be used. This is a medicine called emicizumab (brand name: Hemlibra). It is given as a shot under the skin once a week, every other week, or once a month.

For people with hemophilia A or B, other treatments are being studied. Marstacimab (brand name: Hympavzi) is available in the US. Concizumab (brand name: Alhemo) is available in Canada. Not a lot of people have used these treatments yet, but they might become more common in the future.

For some people, "gene therapy" might be an option. This is a treatment to change the hemophilia gene so it can make enough of the clotting factor.

Deciding which treatment is best can be complicated. A hemophilia treatment center will help you and your doctor decide. These centers can also help you plan ahead for things like surgery.

How else can I avoid bleeding problems? — 

You should do the following:

●See your doctor for regular visits.

●Know which type of hemophilia you have (or your child has), and how severe it is. Share this information with every doctor who takes care of you (or your child).

●Follow your doctor's instructions about treatment.

●Learn the signs and symptoms of bleeding, and how to treat it.

●Avoid taking medicines called NSAIDs, unless your doctor says it is OK – Common NSAIDs include aspirin, ibuprofen (sample brand names: Advil, Motrin), and naproxen (sample brand name: Aleve).

●Plan ahead for any procedures or surgery that could cause bleeding.

●Take good care of your teeth, and see your dentist for regular visits.

●Take your medicines with you when traveling.

●If your child has hemophilia, tell their caregivers, day care, or school. Teach them which symptoms to watch for, and what to do if there is bleeding or an injury.

●Plan ahead for exercise and other physical activities. Exercise is healthy, but some sports can increase the risk of serious bleeding. This is especially true for high-contact sports. If you want to play sports, your doctor can help you plan to lower your risk of bleeding. For example, some people can get a dose of factor right before playing. Any injury should be taken seriously.

How can I learn more about hemophilia? — 

Talk with your doctor or nurse. The National Bleeding Disorders Foundation (formerly called "National Hemophilia Foundation") also has a lot of information. Their website is www.bleeding.org. Their toll-free phone number in the US is 1-888-463-6643.

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