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Definition  

Hemophilia is a group of bleeding disorders. It is caused by low amounts of specific clotting factors. These factors help to stop bleeding.

The most common types of hemophilia are:

  • Hemophilia A (classic hemophilia)—accounts for 80% of all hemophilia (1 in 5,000 males), caused by too little factor VIII
  • Hemophilia B (Christmas disease)—occurs in 1 in 20,000 males, caused by too little factor IX
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Genetic Outcome Possibilities  
Fetus Chromosomes

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Causes  

Hemophilia is caused by a faulty gene located on the X chromosome.

Females carry two copies of the X chromosome. If the faulty gene is only on one X, the normal gene on the second X will take over. As a result, they will not get the disease. Instead, they are carriers of the gene. The risk for their male offspring to inherit the gene is 1 in 2 or 50%. The chance that their female offspring will inherit the gene is also 50%. These female offspring will be carriers like their mothers.

It is possible for a female to have hemophilia. For this to happen she must inherit the faulty gene from both her mother and her father.

Males carry only one X chromosome. If they get the faulty gene, the disease will develop.

It is possible for a new genetic mutation to occur. This means a person can get hemophilia even if neither parent carries a genetic mutation.

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Risk Factors  

Hemophilia mostly occurs in men. Your chances of hemophilia are also increased if you have a family member with hemophilia.

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Symptoms  

Symptoms may vary depending on the severity of the disease. Bleeding is the main symptom, which is often brought on by injury or surgery. Hemophilia may go unnoticed until the infant becomes mobile. In severe cases, bruising occurs easily, and spontaneous bleeding into joints can cause joint pain. Symptoms in mild versions of hemophilia may not appear until later in life.

Symptoms that can occur with hemophilia include:

  • Easy bruising
  • Severe nosebleeds
  • Blood in urine
  • Blood in stools
  • Heavy bleeding after minor cuts, bumps, dental work, or other trauma
  • Joint pain
  • Heavy menstrual bleeding in women who are carriers
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Diagnosis  

The doctor will ask about your symptoms and medical history. A physical exam will be done.

Tests may include:

  • Tests to see how well your blood clots and blood tests to look for other causes of bleeding problems
  • Blood tests to measure the amounts of clotting factors present
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Treatment  

Talk with your doctor about the best treatment plan for you. Options include:

Blood Factor Concentrate  

You'll be tested often to monitor your factor levels. When your factor levels drop too low, you may be given a dose. You may also be given a dose if you are bleeding or at high risk for bleeding, such as during surgery.

Blood factor concentrate may be given through an IV. The type of blood factor that you are given depends on the type of hemophilia you have.

People with hemophilia and their families can be taught to administer blood factor concentrate at home at the first signs of bleeding. This can help prevent a crisis. People with severe forms of the disease may need regular infusions.

Some patients develop an inhibitor to a particular factor. This may require treatment with other clotting factors.

Medication  

Mild hemophilia A may be treated with an infusion of medication. This infusion causes the release of blood factor stored within the body on the lining of blood vessels.

Immunization  

The hepatitis B and hepatitis A vaccines are important. There is an increased risk of exposure to hepatitis with frequent infusions of blood products.

Bleeding Prevention  

The following steps may help prevent bleeding:

  • Good dental care is important. It may decrease the risk of major dental work.
  • Be aware of the effect of high impact activities:
    • Take extra care to protect the head from injuries.
    • People with severe hemophilia should avoid activities that include a high risk of collision.
  • Avoid drugs that can also aggravate bleeding problems such as:
    • Blood thinners, such as aspirin or heparin
    • Antiplatelets, such as warfarin
    • Certain analgesics, such as nonster