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Disease & Condition

Hemophilia

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.

Symptoms

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 to see a doctor

Prolonged bleeding after circumcision may be the first indication of hemophilia in a baby boy. In boys who aren’t circumcised, easy bruising when the child becomes more mobile may lead to the diagnosis. The first episode of bleeding generally occurs by the time a child is 2 years old.

If your child bruises easily, see your doctor. If your child has heavy bleeding that can’t be stopped after an injury, seek emergency medical care.

If you’re pregnant or considering pregnancy, and have a family history of hemophilia, talk to your doctor. You may be referred to a specialist in medical genetics or bleeding disorders, who can help you determine if you are a carrier of hemophilia. If you are a carrier, it’s possible to determine during pregnancy if the fetus is affected by hemophilia.

Causes

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

Complications of hemophilia may include:

  • Deep internal bleeding.
  • Damage to joints.
  • Infection.
  • Adverse reaction to clotting factor treatment.

Tests and 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 show a clotting-factor deficiency. Hemophilia is diagnosed at an average age of 9 months and almost always by age 2. Sometimes, mild hemophilia isn’t diagnosed until a person undergoes surgery and experiences excessive bleeding.

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.
  • Clot-preserving medications (antifibrinolytics).
  • Fibrin sealants.
  • Physical therapy.
  • First aid for minor cuts.
  • Vaccinations

Lifestyle and home remedies

To avoid excessive bleeding and protect your joints:

  • Exercise regularly.
  • Avoid certain pain medications.
  • Avoid blood-thinning medications.
  • Practice good dental hygiene.
  • Protect your child from injuries that could cause bleeding.

 

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