Hemophilia is a term used to describe a group of bleeding disorders in which blood clotting does not work normally.  These disorders may be mild or life-threatening depending on the type and the amount of the clotting protein that is missing.  The two major types of hemophilia are hemophilia A (found in one in 5000 boys) and hemophilia B (found in one in 25,000 boys).  These types of hemophilia are genetic (which means you are born with it) and only affect males.  There are other similar blood clotting disorders which affect female and males equally. 

What causes hemophilia?

Hemophilia A is caused by a deficiency of factor VIII (eight), while hemophilia B is caused by a deficiency of factor IX (nine).  These proteins are normally created by the liver and float through the blood stream.  When a blood vessel is injured, chemicals activate clotting factor proteins (like factor VIII and factor IX) which help form blood clots by forming protein nets that hold in blood cells and cause platelets to clump together into a glob.  Without enough clotting proteins, even a minor injury can cause bleeding that doesn't stop.

What are the symptoms of hemophilia?

Mild forms of hemophilia may not be diagnosed for many years.  In these cases, only severe injuries and illness may make doctors aware of a bleeding disorder.  Severe hemophilia may cause spontaneous bleeding or bleeding with very minor trauma.  Some male infants are diagnosed with hemophilia after circumcision when bleeding is excessive or lasts longer than expected.  Some children have frequent, unexplained bruising.  Bleeding under the skin may cause bruising, large red/blue/purple spots on the skin or a fine red rash (petechiae).  Bleeding may also occur in unusual places such as within joints, muscles or inside the body (especially after surgery).

How is hemophilia diagnosed?

A simple blood test can be done to determine if clotting is abnormal (coagulation studies).  Further tests may be necessary to determine the type of bleeding disorder.

How is hemophilia treated?

Mild forms of hemophilia may require no treatment.  Attempts to avoid injury may require limiting participation in rough sports or other risky activities.

Moderate and severe hemophilia may be treated with medicines that help increase levels of the deficient clotting proteins or decrease breakdown of clots.  Intravenous replacement of the missing protein may be necessary, especially when the child has significant bleeding, an injury or will have surgery or a dental procedure.

What follow up is required for hemophilia?

Severe hemophilia needs to be monitored closely and some kids require routine replacement of clotting proteins as an IV medicine.  Pain in muscles and joints, bruises and bleeding should be evaluated by a doctor quickly to prevent severe blood loss or damage to body tissues (especially to prevent long-term joint damage).

Mild forms of hemophilia probably do not shorten a normal lifespan and may actually help prevent other common long-term medical problems such as heart disease or stroke.

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