What is hemophilia?
Hemophilia is a rare genetic bleeding disorder caused by a shortage of certain clotting factors. Blood-clotting factors are needed to help stop bleeding after a cut or injury and to prevent unplanned bleeding. The hemophilia gene can contain many different errors, leading to different degrees of abnormality in the amount of clotting factor produced.
There are two types of hemophilia. Hemophilia A is caused by a deficiency of active clotting factor VIII. Approximately 80 percent of all people with hemophilia have type A, and most of these cases are severe. Approximately 1 out of every 5,000 male babies is born with hemophilia A. Hemophilia B (Christmas disease) is caused by a lack of active clotting factor IX. It is less common, occurring in 1 out of every 30,000 male babies.
What causes the disease?
Hemophilia A and B are caused by an inherited defect in a pair of chromosomes. The defect affects how much clotting factor a person will produce and how the factor will function. The less normal the function and amount of clotting factor, the more severe a case of hemophilia can be.
What are the symptoms of hemophilia?
Symptoms of hemophilia are generally first noticed during infancy or childhood. However, some people with milder forms of the disease may not develop symptoms until later. The following signs of hemophilia may be noticed shortly after birth:
- Bleeding into the muscle, resulting in a deep bruise after receiving a routine Vitamin K shot
- Prolonged bleeding after a male child is circumcised
Other symptoms include:
- Bleeding into a joint or muscle that causes pain and swelling
- Abnormal bleeding after an injury or surgery
- Easy bruising
- Frequent nosebleeds
- Blood in the urine (hematuria)
- Bleeding after dental work
How is hemophilia diagnosed?
Blood tests can help determine whether your child has hemophilia. Genetic tests are available if you would like to know whether you are a carrier of hemophilia. (Only females can be carriers.)
Hemophilia is usually classified by its severity. There are three levels of hemophilia, although they can overlap. The severity of the disease is defined by how much clotting factor is produced and in what situations bleeding most often occurs.
Mild hemophilia might not be recognized unless there is excessive bleeding after a major injury or surgery. In moderate hemophilia, bleeding usually follows a fall, sprain or strain. With severe hemophilia, bleeding may occur one or more times a week for no apparent reason.
The percentage of clotting factor in the blood remains the same throughout a person’s life. All family members who have hemophilia usually have similar forms.
What is the treatment for hemophilia?
Most people with hemophilia can successfully manage their bleeding problems with clotting factor replacement therapy. Clotting factors may be injected when needed or on a regular basis to prevent bleeding episodes. On-demand therapy is used before participating in activities with a high risk for injury or once it is suspected that bleeding has begun.
Pediatric Hematologists
- Deborah Brown, MD
- William K. Hoots, MD
For more information, please call 713-500-8360.
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