Hemophilia

Diagnosis

Most people with serious hemophilia get a diagnosis within the first year of life. People with mild forms may not know they have the condition until they're adults. Some people learn they have hemophilia after bleeding more than expected during a surgical procedure.

Tests

Tests can help diagnose hemophilia. They may include:

• Screening tests. These are blood tests that can show how well the blood clots.
• Clotting-factor tests. These blood tests can show a lack of a clotting factor. The tests also can show the type of hemophilia and whether it's mild, moderate or severe.
• Genetic tests. People with a family history of hemophilia might have genetic testing. This can show who is a carrier and help with deciding about becoming pregnant.
• Prenatal tests. It's possible to learn during pregnancy whether hemophilia affects the unborn baby. But the testing poses some risks to the fetus. Talk with your healthcare professional about the pros and cons of prenatal testing.

Treatment

The main treatment for severe hemophilia involves replacing the missing or low clotting factor through a tube in a vein.

This therapy can treat a bleeding episode as it's happening. Some people get the treatment on a regular schedule at home to help prevent bleeding episodes. Some people get ongoing replacement therapy.

Replacement clotting factor can come from donated blood. Other products, called recombinant clotting factors, come from a laboratory, not from human blood.

Other therapies include:

• Desmopressin. In some forms of mild hemophilia, this hormone can trigger the body to release more clotting factor. A healthcare professional may put it slowly into a vein. Or some people use it as a nasal spray.
• Emicizumab (Hemlibra). This is a newer medicine that doesn't have clotting factors. It can help prevent bleeding in people with hemophilia A.
• Concizumab (Alhemo) and marstacimab (Hympavzi). These newer medicines help prevent bleeding in both hemophilia A and B.
• Clot-preserving medicines. Also called antifibrinolytics, these medicines help keep clots from breaking down. These include medicines such as aminocaproic acid (Amicar) and tranexamic acid (Lysteda). Taken by mouth, these medicines can help blood to clot and wounds to heal. These medicines are useful for surgery and dental work.
• Fibrin sealants. A medicine called thrombin that goes on the skin may help with bleeding from surgery and dental work.
• Gene therapy. The U.S. Food and Drug Administration has approved valoctocogene roxaparvovec (Roctavian) for treatment of serious hemophilia A and etranacogene dezaparvovec-drlb (Hemgenix) for hemophilia B. These treatments go into a vein to carry the missing blood-clotting factor into the body. These one-time treatments cause the body to make more of the missing blood clotting factor.
• Physical therapy. It can ease symptoms if internal bleeding has damaged the joints. More serious damage might need surgery.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

To manage bleeding and to protect your joints:

• Exercise regularly. Activities such as swimming, bike riding and walking can build muscles while protecting joints. Contact sports, such as football, hockey or wrestling, aren't safe for people with hemophilia.
• Don't take certain pain medicines. Medicines that can make bleeding worse include aspirin and ibuprofen (Advil, Motrin IB, others). Instead, use acetaminophen (Tylenol, others) for mild pain relief.
• Don't take blood-thinning medicines. Medicines that keep blood from clotting include heparin, warfarin (Jantoven), clopidogrel (Plavix), prasugrel (Effient), ticagrelor (Brilinta), rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa) and dabigatran (Pradaxa).
• Take care of your teeth. The goal is to prevent tooth and gum disease, which can lead to bleeding.
• Get vaccinations. People with hemophilia need to get vaccinations at the right ages. They also should get hepatitis A and B vaccinations. Ask for the smallest gauge needle. Put pressure or ice on the site for 3 to 5 minutes after the shot to lower the risk of bleeding.
• Protect children from injuries that could cause bleeding. Knee pads, elbow pads, helmets and safety belts all help prevent injuries from falls and other accidents. Make sure the furniture in your home doesn't have sharp corners.
• Treat minor wounds. Using pressure and a bandage most often stops bleeding of a minor cut. For small areas of bleeding under the skin, use an ice pack. Suck an ice pop to slow minor bleeding in the mouth.

Coping and support

To help you and your child cope with hemophilia:

• Get a medical alert bracelet. This lets medical professionals know that you or your child has hemophilia. The bracelet also has the type of clotting factor that's best in case you need it.
• Talk with a counselor. Finding the right balance between keeping your child safe but also active can be tricky. A social worker or therapist who knows about hemophilia can help show the limits you need to place on your child.
• Let people know. Be sure to tell anyone who takes care of your child about your child's condition. This includes babysitters, child care workers, relatives, friends and teachers. If your child plays noncontact sports, tell coaches too.

Preparing for your appointment

If you or your child has symptoms of hemophilia, your main healthcare professional may send you to a doctor who specializes in blood disorders, called a hematologist.

What you can do

Make a list of:

• Symptoms and when they began
• Key medical information, including other conditions, and a family history of bleeding disorders.
• All medicines, vitamins and supplements, including dosages.

Questions to ask your healthcare professional

• What's the most likely cause of these symptoms?
• What tests diagnose this condition?
• What treatment do you suggest?
• What activity restrictions do you suggest?
• What is the risk of long-term complications?
• Do you think that meeting with a genetic counselor can help our family?

Be sure to ask all the questions you have.

What to expect from your doctor

Questions your healthcare professional may ask include:

• Have you seen any heavy bleeding, such as nosebleeds or bleeding a long time from a cut or vaccination?
• If you or your child has had surgery, did the surgeon talk about a lot of bleeding?
• Do you or your child get large, deep bruises?
• Do you or your child have pain or warmth around joints?

Living with hemophilia?

Connect with others like you for support and answers to your questions in the Blood Cancers & Disorders support group on Mayo Clinic Connect, a patient community.

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