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. There’s no cure yet. But with proper treatment and self-care, most people with hemophilia can maintain an active, productive lifestyle.


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

Emergency signs and symptoms of hemophilia include:

  • Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
  • Bleeding from an injury, especially if you have a severe form of hemophilia
  • Painful, prolonged headache
  • Repeated vomiting
  • Extreme fatigue
  • Neck pain
  • Double vision


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 (platelets and plasma proteins). Hemophilia occurs when you have a deficiency in one of these clotting factors.

Hemophilia is inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people hemophilia is caused by a genetic change (spontaneous mutation).

There are several types of hemophilia. They are classified according to which clotting factor is deficient:

  • Hemophilia A,the most common type, is caused by insufficient clotting factor VIII.
  • Hemophilia B,the second most common type, is caused by insufficient clotting factor IX.
  • Hemophilia C,in which signs and symptoms are often mild, is caused by insufficient clotting factor XI.

Hemophilia inheritance

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.

Hemophilia inheritance depends on your type of hemophilia:

  • Hemophilia A or B.The gene that causes them is located on the X chromosome, so it can’t be passed from father to son. Hemophilia A or B 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. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
  • Hemophilia C.This disorder can be passed on to children by either parent. Hemophilia C can occur in girls and boys.


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 human immunodeficiency virus (HIV). The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products (recombinant factor concentrates).
  • 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.

Treatments and drugs

While there’s no cure for hemophilia, most people with the disease can lead fairly normal lives.

Treatment for bleeding episodes

Therapies to stop bleeding depend on the type of hemophilia:

  • Mild hemophilia A.Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factor to stop bleeding. Occasionally, DDAVP is given as a nasal medication.
  • Moderate to severe hemophilia A or hemophilia B.Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. Repeated infusions may be needed if internal bleeding is severe.
  • Hemophilia C.Clotting factor XI, the factor missing in this type of hemophilia, is available only in Europe. In the United States, plasma infusions are needed to stop bleeding episodes.

Ongoing treatment

Your doctor may recommend:

  • Regular infusions of DDAVP or clotting factor.The infusions can help prevent bleeding. This approach may reduce time spent in the hospital and limit side effects such as damage to joints. Your doctor can show you how to perform the infusions.
  • Clot-preserving medications (antifibrinolytics).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.


Hemophilia Physical Therapy

Physical Therapy Role:

Physical therapy for the child with hemophilia is aimed at maintaining ROM and strength in all joints and at preventing or diminishing disability. Specific goals include:

PRICE protocol in case of acute Bleeding:

  • PRICE (Protection, Rest, Ice, Compression, Elevation)- PRICE is a treatment many health care professionals recommend for joint bleeds. It also reduces swelling and tissue damage when used together with clotting factor concentrates.

Prevention of contractures:

  • Manual traction and mobilization.
  • Progressive/dynamic splinting.
  • Serial casting/drop-out casts.
  • Active ROM exercises (passive ROM is generally contraindicated).

Maintaining strength:

  • Isometric strengthening exercises initially, then graded progressive exercises.
  • Exercise in a pool, hot soaks in a tub, or whirlpool baths.  It is easier to move the body in water. Good for aerobic conditioning.

Preventing or diminishing disability:

  • Gait training.
  • Proprioceptive training.
  • Bracing/splints-provides stabilization and protection.


Additional Therapy Measures and the Use of Assistive Devices

The use of additional modalities to facilitate an exercise program is also recommended. Although some of these treatments require a visit to a physical therapist, most can be learned by the patient and incorporated into a home exercise program.

o   ASSISTIVE DEVICES: Assistive devices, such as canes and crutches may be necessary to help rest a joint or muscle, especially during an acute bleeding episode. Assistive devices should be used only when necessary. If used for a prolonged period of time, assistive devices can increase the chance of causing bleeds in the upper extremities, especially the elbows.

  • ELECTRICAL STIMULATION: Electrical stimulation can be used to stimulate a muscle contraction for muscle strengthening. A process called transcutaneous electric nerve stimulation, or TENS, may be used for pain control.

o   HEAT: Heat can be used to help relieve pain and promote relaxation. DO NOT use heat during the acute phase of a bleeding episode.

o   ICE: The use of ice has been mentioned in the treatment of acute joint and muscle bleeds. Ice may also be effective before or after an exercise session to reduce inflammation.

o   MASSAGE and RELAXATION: Massage, relaxation and visual imagery can help relax tense muscles. This may alleviate stress and decrease pain related to bleeding episodes.

o   SPLINTS and BRACES: Elastic, neoprene, splints and arch supports may be used to support a joint and some adjacent muscles. These devices help protect the joint; however, some can restrict joint movement. Restricted joint movement may result in muscle wasting and weakness and thus an active strengthening program is necessary to maintain normal strength.

The ultimate objective in physical therapy and hemophilia care is to restore each individual to their highest level of musculoskeletal performance and activity after a bleeding episode. To do this, it is important to incorporate regular exercise or sports into your everyday life. Specific sports such as swimming, weight lifting, golf, tennis, bicycling, and brisk walking are recommended for those with hemophilia to maintain muscle strength and cardiovascular fitness. A healthier body is linked to a healthier mind and this improves your quality of life.


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