Hemophilia

Hemophilia is a rare blood disorder that keeps your blood from clotting. If you have hemophilia, a minor injury may cause you to bleed a lot. You might bruise easily. It can cause life-threatening internal bleeding.

This condition most often happens when you inherit certain genetic changes that keep your body from making clotting factors. These are proteins that help your blood form clots.

Healthcare providers classify hemophilia as being severe, moderate or mild. They base the classification on the number of clotting factors in your blood. There’s no cure for it, but newer treatments prevent or reduce how often you experience bleeding that hemophilia causes.

Hemophilia types

The types of this condition are:

• Hemophilia A: This is the most common type. You may develop this condition because you have low levels of clotting factor 8 (factor VIII).
• Hemophilia B: You may have this type if you don’t have enough clotting factor 9 (factor IX).
• Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency. It’s the least common type of hemophilia.

Hemophilia symptoms

The most common symptoms are unusual or excessive bleeding or bruising. How much bruising or bleeding you experience depends on whether you have a severe, moderate or mild form of the condition. Common symptoms include:

• Bleeding: You may bleed for no apparent reason, like a sudden nosebleed. You may bleed for a long time after a serious injury, surgery or a cut finger. Babies with this condition who bump their mouths on a toy may bleed from their mouths.
• Bruises: Bleeding under your skin causes bruises. People with hemophilia may develop large bruises after minor injuries. Babies and toddlers may have goose eggs — large, round bumps — that develop if they bump their heads.
• Joint pain: Internal bleeding may make your joints ache, swell or feel hot to the touch. Babies may have bruises or swollen areas on their arms and legs. They may be fussy or refuse to crawl.

Very rarely, severe hemophilia causes bleeding into your brain. This is a life-threatening condition. Symptoms are persistent headaches, double vision or feeling very tired. If you have hemophilia and have these symptoms, get medical care right away.

Hemophilia causes

The condition most often happens because you inherit changed genes from your biological parents. Genes carry the clotting factor instruction manual. When genes change, they don’t make enough clotting factor, and your blood doesn’t clot. People inherit the change in an X-linked recessive manner. Here’s how that happens:

• The changed genes are on X chromosomes. Chromosomes decide your sex.
• Females have two X chromosomes. They inherit one from their biological mother and one from their biological father. Males inherit one X chromosome from their biological mother and one Y chromosome from their biological father.
• A mother with a changed gene on one chromosome can pass that chromosome on to a biological child.
• A male child who inherits a chromosome carrying the changed gene will have hemophilia because they only have one X chromosome.
• A female child who inherits the changed gene will carry the disease or have mild symptoms like unusually heavy periods. That’s the case because they have a second chromosome that doesn’t carry the changed gene.

A spontaneous gene change may cause hemophilia. This means you don’t inherit the disease. Instead, the gene change happens during fetal development when cells divide and make copies of themselves. Mistakes or changes can happen during the gene-copying process.

The condition doesn’t always involve changed genes. Healthcare providers call this acquired hemophilia. It develops when autoantibodies attack clotting factor 8. Autoantibodies are proteins your immune system makes that attack healthy cells, tissue and proteins.

Risk factors

The most significant risk factor is if your biological father has hemophilia or your biological mother carries the changed gene that causes it.

Complications

This condition can affect your quality of life and your health. Complications of hemophilia include:

• Anxiety and depression
• Chronic pain
• Increased risk of heart disease

Another complication of this condition is hemophilia with inhibitor. This is a side effect of replacement therapy, a common hemophilia treatment. Some people develop antibodies (inhibitors) that keep treatment from working like it should.

How doctors diagnose hemophilia

A healthcare provider will do a physical exam. They’ll ask about your health and if anyone in your immediate family has this condition. They may do the following tests:

• Complete blood count (CBC) to measure and study your blood cells
• Prothrombin time test (PT) to see how quickly your blood clots
• Partial thromboplastin time test (PTT), another blood test to time blood clot formation
• Specific clotting factor tests to check clotting factor levels

How do healthcare providers treat hemophilia?

Your treatment will depend on your situation. For example, people with severe forms of hemophilia A or hemophilia B may have replacement therapy. You receive human plasma concentrates or lab-made clotting factors. These boost your clotting factor levels. Replacement therapy may prevent bleeding or slow it down.

Newer treatments are:

• Marstacimab-hncq (Hympavzi^®): This is an alternative preventive therapy for people with severe hemophilia A and B. It works by blocking a protein that keeps your blood from clotting. It also boosts an enzyme that helps your blood clot. Concizumab (Alhemo^®) is a similar medication.
• Fitusiran (Qfitlia®): This medication keeps your liver from making antithrombin, a substance that keeps your blood from clotting.
• Gene therapy: This treatment involves the changed gene that causes low levels of clotting factors. It replaces the changed gene with one that instructs your body to make more clotting factors.

Your provider may tell you to avoid pain medications — like aspirin, ibuprofen and naproxen — which keep your blood from clotting. You should also avoid anticoagulants such as heparin or warfarin.

When should I seek care?

Contact your healthcare provider if you notice changes in your body, like increased bleeding or bruising. If you have hemophilia, go to the emergency room right away if you:

• Have severe headaches or double vision, as these symptoms could mean you have bleeding in your brain
• Have severe joint swelling and joint pain, which can happen if you use replacement therapy and don’t have access to your medication

What can I expect if I have hemophilia?

Hemophilia is a chronic disease. You’ll need medication and other medical care for the rest of your life. But newer treatments mean you may have nearly the same life expectancy as someone who doesn’t have the condition.

Is there anything I can do to feel better?

Hemophilia can disrupt every aspect of your daily life, leaving you feeling frustrated and anxious. Here are suggestions that might help:

• Manage your weight: Hemophilia can cause internal bleeding that damages your joints. Maintaining a weight that’s right for you may ease joint pain.
• Take care of your teeth: Brushing your teeth can help you avoid dental care, like extractions or root canals, that can cause bleeding.
• Consider mental health support: The condition may lead to depression and anxiety. Ask your healthcare provider about mental health services that may help you.
• Be as active as you can be: Ask your healthcare provider about staying active without risking an injury. Being active can help you manage the stress of living with a chronic disease.