Definition

Hemophilia is a group of bleeding disorders. Certain blood clotting factors are too low or missing. These help to stop bleeding.

The most common types are:

  • Hemophilia A (classic hemophilia)—caused by too little or no factor VIII (most common)
  • Hemophilia B (Christmas disease)—happens in males, caused by too little or no factor IX

Causes

A faulty gene on a certain DNA strand causes hemophilia. Females carry 2 copies of the strand. If one is faulty, the other one takes over. The faulty gene can pass to their children. If so, the female child will carry the gene. If it passes to the male, they will get the disease because they carry one copy of the strand.

It’s possible for a female to get the disease. They would have to get the faulty gene from both parents.

Genetic Outcome Possibilities

Fetus Chromosomes
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Risk Factors

Hemophilia mainly happens in males. Your chances are higher if it runs in your family.

Symptoms

Symptoms differ based on severity. Bleeding is the main issue. It’s often related to an injury or surgery. In babies, the disease may not show until they are mobile. Milder versions may not be noticed until later in life.

The most common are:

  • Easy bruising
  • Repeated nosebleeds
  • Blood in the urine
  • Blood in the stool
  • Heavy bleeding after minor cuts or bumps
  • Bleeding after dental work or surgery
  • Bleeding in the joints causing pain
  • Heavy periods in women who carry the gene

Diagnosis

The doctor will ask about your symptoms and health history. Your answers and a physical exam may point to hemophilia. You may also have blood tests to see how well your blood clots. These tests will also look for low or missing clotting factors.

Treatment

Care may involve:

An injection replaces the missing factor. It’s based on the type of disease you have. You will watch your levels with a test. The dose is used when the levels drop too low. If you have a high risk of bleeding for any reason, you take a dose ahead of time.

This factor can be given at home. You and others will learn how to give it. It’s used at the first signs of bleeding. This can help avert a crisis. People with serious forms sometimes need doses at scheduled times.

Some people may need more than one clotting factor.

Mild hemophilia A is treated with medicine. The medicine causes the release of blood factor. It’s stored within the lining of the blood vessels.

The hepatitis B and hepatitis A vaccines are important. There is a higher chance of getting hepatitis with frequent infusions of blood products.

To lower your chances of bleeding:

  • Take care of your teeth. It may lower the chances of needing major work.
  • Take care when involved in activities:
    • Protect your head from injuries.
    • You may need to avoid contact sports.
  • Don’t use medicines that can make bleeding worse such as:
    • Blood thinners
    • Certain pain medicines

Prevention

If the disease runs in your family, talk to your doctor about genetic testing.