Hemophilia

Hemophilia is a rare blood disorder that affects the blood’s ability to clot. Usually when you get a cut or injury, your blood clots to stop the bleeding. If you have hemophilia, you have trouble with this process. You may bleed longer than usual, which can lead to serious problems.

At Banner Health, we understand the challenges of living with hemophilia. Our team of experts is here to provide care, support and treatments to help you or a loved one manage the condition effectively.

What is hemophilia?

Hemophilia is a genetic condition, meaning that it usually runs in families. People with hemophilia lack certain blood-clotting proteins (clotting factors) that help control bleeding. These clotting factors work with platelets (cells) to stop bleeding. If these factors are missing or low, you will bleed for a longer time than someone without the disorder.

Types of hemophilia

There are three main forms of hemophilia:

• Hemophilia A: This is the most common type of hemophilia. It happens when you don’t have enough clotting factor VIII (factor 8). Hemophilia A is also referred to as classic hemophilia.
• Hemophilia B: This type happens when you don’t have enough clotting factor IX (factor 9). Hemophilia B is also called Christmas disease. 
• Hemophilia C: This is the rarest form of hemophilia. It happens when you don’t have enough clotting factor XI (factor 11).

Hemophilia can range from mild to severe. In mild cases, bleeding may only occur after surgery or a major injury. In severe cases, spontaneous bleeding can happen, even without injury. Internal bleeding in muscles or joints is common and can cause lasting damage if not treated quickly. 

What causes hemophilia?

Hemophilia is usually passed down through families. It’s caused by a change or mutation in a gene. This gene is located on the X chromosome (one of the sex chromosomes everyone has).

Men have one X and one Y chromosome. If they inherit the gene for hemophilia on their X chromosome, they are more likely to have the condition.

Women have two X chromosomes. Even if they inherit the gene on one X chromosome, they don’t always show symptoms because their other X chromosome can make enough clotting factors. Women who have a hemophilia mutation are at increased risk of bleeding and some even need clotting factor to treat bleeding symptoms. They can be the first in their family to carry the gene and pass it to their children. All people who have a hemophilia gene should be treated based on bleeding symptoms.

In rare cases, hemophilia can develop later in life. This is called acquired hemophilia. It can happen because of other health conditions (such as an immune system disorder or cancer) or medications that affect clotting factors.

Signs and symptoms of hemophilia

The main symptom of hemophilia is bleeding that lasts longer than normal. Bleeding can happen outside the body (such as from a cut) or inside the body (such as a torn muscle or into a joint). It can occur with surgery, after an injury, with normal activities or even from no known injury. 

Symptoms may include:

• Large bruises: Bruises that occur from even minor accidents.
• Easy bleeding: A minor injury can cause bleeding from the mouth and gums. It can also happen while brushing or flossing teeth or during dental work. 
• Joint pain: Pain, swelling and tightness in the joints, especially the knees, elbows and ankles.
• Other bleeding: Blood found in your urine (pee) or stool (poop), uncontrolled bleeding after a vaccination or shot, or frequent and hard-to-stop nosebleeds.

In severe cases, internal bleeding can be fatal, especially if it occurs in the brain, throat or stomach (abdomen). Call 911 or visit your nearest emergency department if you experience sudden, severe pain, confusion or trouble moving parts of your body.

How is hemophilia diagnosed?

Diagnosing hemophilia usually involves a series of blood tests. These tests measure how well your blood clots and the amount of clotting factor in your blood. This can happen early in life if a child shows signs of unusual bleeding or later if symptoms become more obvious. 

These tests may include a:

• Complete blood count (CBC) measures various parts of your blood, including red blood cells, white blood cells and platelets. 
• Prothrombin time (PT) measures how long it takes the blood to clot. 
• Activated partial thromboplastin time (aPTT) measures how long it takes for blood to clot by checking the function of several clotting factors, including factor VIII and factor IX. 
• Clotting factor assay (factor activity test) measures the blood’s specific levels of clotting factors. 
• Genetic or DNA testing to check for mutations in genes. 

You have mild hemophilia if you have 5% to 50% of the normal amount of clotting factor. If you have 1% to 5% of the normal level of clotting factor, you have moderate hemophilia. If you have less than 1%, you have severe hemophilia. 

If you have a family history of hemophilia, it’s important to get tested, even if you don’t show signs. Early diagnosis can help you receive proper care and prevent complications.   

Treatment options

While there is no cure for hemophilia, treatments can help manage the condition. The main treatment for hemophilia is to replace the missing blood clotting factor by factor concentrates or other medicines that take the place of the missing factor. Gene therapy has recently been approved for hemophilia. This treatment gives the liver the ability to make clotting factor for the whole body.

Replacement therapy involves replacing the missing clotting factor through an intravenous (IV) infusion. Replacement clotting factor is made from donated human blood that has been treated to prevent the spread of diseases, such as hepatitis. 

Similar products called recombinant clotting factors, which are not from human blood, can also be used. These are made in a laboratory and are easy to store, mix and use at home for preventive (prophylactic) use. 

New therapies that can take the place of the factor (bispecific antibodies) or rebalance the clotting cascade (tissue factor pathway inhibitor modulators) are now available to prevent bleeding and are given by an injection under the skin. 

Other therapies include:

• Desmopressin: This medication can stimulate the body to release more clotting factor VIII if you have mild hemophilia A. It is available as an injection or nasal spray.
• Antifibrinolytic medications: These medicines can help prevent clots from breaking down too quickly. They are often used before dental work or surgery to reduce bleeding risk.
• Gene therapy: Research on gene therapy for hemophilia is ongoing. There are now gene therapy options for both hemophilia A and hemophilia B. Some people may benefit from new treatments that add a normal factor 8 gene to the liver. This allows the person’s own liver to make factor and correct the hemophilia.

Are there treatment complications?

Hemophilia treatments work well but sometimes there can be problems.

Inhibitors: Sometimes, the body doesn’t like the clotting factor medicine. It creates blockers, called inhibitors, which stop the treatment from working. This makes it harder to stop bleeding. Your health care provider can try different treatments that work around the inhibitors.

Allergic reactions: Some people might be allergic to the clotting medicine. This could cause itching, hives or trouble breathing. Contact your provider if you feel any of these symptoms. They can give you medicine to help or switch your treatment.

Living with hemophilia

Hemophilia is a lifelong condition but with proper care and support you can live a full, active life. Here are some tips for managing hemophilia:

• Regularly scheduled treatments: Stay on top of your treatment schedule, whether it’s replacement therapy or medications.
• Stay active: Physical activity like swimming or walking can help strengthen muscles and protect joints. Just be sure to talk to you provider before starting a new activity, especially any type of contact sports that may lead to injury.
• Protect your joints: If you experience frequent bleeding, use joint braces or wraps as recommended by your health care provider. 
• Monitor signs of bleeding: Be aware of unusual bruising, swelling or pain. Contact your provider if you notice anything concerning. 
• Avoid certain pain medications: Pain medicines like ibuprofen, aspirin and naproxen prevent blood from clotting well. Also, anticoagulants such as heparin and warfarin should be avoided.
• Have good dental care: Brush and floss and have regular dental cleanings to prevent tooth and gum disease.
• Create an emergency plan: Know what to do in case of severe bleeding and keep emergency contact numbers handy. Make sure family and friends know what to do if you have spontaneous bleeding.

How Banner Health Can Help Keep You Healthy

At Banner Health, we ensure your hemophilia treatment works well and is safe. Our expert team works with you to create a customized care plan to manage your condition and improve your quality of life.

Contact Banner Health today to learn more about hemophilia treatment options or to schedule an appointment with one of our specialists.