Hemophilia

Medically reviewed on Feb 2, 2018

Overview

Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.

Small cuts usually aren't much of a problem. The greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening.

Hemophilia is an inherited (genetic) disorder. Treatment includes regular replacement of the specific clotting factor that is reduced.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include:

• Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
• Many large or deep bruises
• Unusual bleeding after vaccinations
• Pain, swelling or tightness in your joints
• Blood in your urine or stool
• Nosebleeds without a known cause
• In infants, unexplained irritability

Bleeding into the brain

A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. This rarely happens, but it's one of the most serious complications that can occur. Signs and symptoms include:

• Painful, prolonged headache
• Repeated vomiting
• Sleepiness or lethargy
• Double vision
• Sudden weakness or clumsiness
• Convulsions or seizures

Causes

When to see a doctor

Seek emergency care if you or your child experiences:

• Signs or symptoms of bleeding into the brain
• An injury in which the bleeding won't stop
• Swollen joints that are hot to the touch and painful to bend

If you have a family history of hemophilia, you may want to undergo genetic testing to see if you're a carrier of the disease before you start a family.

When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles. Hemophilia occurs when you have a deficiency in one of these clotting factors.

There are several types of hemophilia, and most forms are inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people, an unexpected change (spontaneous mutation) occurs in one of the genes associated with hemophilia.

Acquired hemophilia is a rare variety of the condition that occurs when a person's immune system attacks clotting factors in the blood. It can be associated with:

• Pregnancy
• Autoimmune conditions
• Cancer
• Multiple sclerosis

Hemophilia inheritance

In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.

This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. But some carriers can experience bleeding symptoms if their clotting factors are moderately decreased.

Complications

Complications of hemophilia may include:

• Deep internal bleeding. Bleeding that occurs in deep muscle can cause your limbs to swell. The swelling may press on nerves and lead to numbness or pain.
• Damage to joints. Internal bleeding may also put pressure on your joints, causing severe pain. Left untreated, frequent internal bleeding may cause arthritis or destruction of the joint.
• Infection. People with hemophilia are likelier to have blood transfusions, increasing their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s due to screening of donated blood for hepatitis and HIV.
• Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective.

Diagnosis

For people with a family history of hemophilia, it's possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

In children and adults, a blood test can reveal a clotting-factor deficiency. Depending on the severity of the deficiency, hemophilia symptoms can first arise at various ages.

Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms may not be apparent until adulthood. Some people first learn they have hemophilia after they bleed excessively during a surgical procedure.

Treatment

Several different types of clotting factors are associated with different varieties of hemophilia. The main treatment for severe hemophilia involves receiving replacement of the specific clotting factor that you need, through a tube placed in a vein.

This replacement therapy can be given to combat a bleeding episode that's in progress. It can also be administered on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, aren't made from human blood.

Other therapies may include:

• Desmopressin (DDAVP). In mild hemophilia, this hormone can stimulate your body to release more clotting factor. It can be injected slowly into a vein or provided as a nasal spray.
• Clot-preserving medications (anti-fibrinolytics. These medications help prevent clots from breaking down.
• Fibrin sealants. These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
• Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. If internal bleeding has caused severe damage, you may need surgery.
• First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.
• Vaccinations. Although blood products are screened, it's still possible for people who rely on them to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.

Lifestyle and home remedies

To avoid excessive bleeding and protect your joints:

• Exercise regularly. Activities such as swimming, bicycle riding and walking can build up muscles while protecting joints. Contact sports — such as football, hockey or wrestling — are not safe for people with hemophilia.
• Avoid certain pain medications. Drugs that can aggravate bleeding include aspirin and ibuprofen (Advil, Motrin IB, others). Instead, use acetaminophen (Tylenol, others), which is a safe alternative for mild pain relief.
• Avoid blood-thinning medications. Medications that prevent blood from clotting include heparin, warfarin (Coumadin, Jantoven), clopidogrel (Plavix) and prasugrel (Effient).
• Practice good dental hygiene. The goal is to prevent tooth extraction, which can lead to excessive bleeding.
• Protect your child from injuries that could cause bleeding. Kneepads, elbow pads, helmets and safety belts all may help prevent injuries from falls and other accidents. Keep your home free of furniture with sharp corners.

Coping and support

To help you and your child cope with hemophilia:

• Get a medical alert bracelet. This bracelet lets medical personnel know that you or your child has hemophilia, and the type of clotting factor that's best in case of an emergency.
• Talk with a counselor. You may be concerned about striking the right balance between keeping your child safe and encouraging as much normal activity as possible. A social worker or therapist with knowledge of hemophilia can help you cope with your concerns and identify the minimum limitations necessary for your child.
• Let people know. Be sure to tell anyone who will be taking care of your child — baby sitters, workers at your child care center, relatives, friends and teachers — about your child's condition. If your child plays noncontact sports, be sure to tell coaches, too.

Preparing for an appointment

If you or your child has signs or symptoms of hemophilia, you may be referred to a doctor who specializes in blood disorders (hematologist).

What you can do

• Write down the symptoms and when they began.
• Write down key medical information, including other conditions.
• Make a list of all medications, vitamins and supplements.
• Note whether anyone in your family has been diagnosed with a bleeding disorder.

Questions to ask your doctor

• What's the most likely cause of these signs and symptoms?
• What kinds of tests are needed? Do they require any special preparation?
• What treatment do you recommend?
• What activity restrictions are recommended?
• What is the risk of long-term complications?
• Do you recommend that our family meet with a genetic counselor?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may make time to go over points you want to spend more time on. You may be asked:

• Have you noticed any unusual or heavy bleeding, such as nosebleeds or prolonged bleeding from a cut or vaccination?
• If you or your child has undergone any surgeries, did the surgeon feel there was excessive bleeding?
• Are you or your child prone to developing large, deep bruises?
• Do you or your child experience pain or warmth around joints?
• Has anyone in your family been diagnosed with a bleeding disorder?

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