Chromosomal and Genetic Conditions
Hemophilia Symptoms and Diagnosis
Symptoms of Hemophilia
The main symptom of hemophilia is that once bleeding starts the child bleeds longer than normal.
Hemophilia symptoms can range from mild to severe. This depends on how low the level of the clotting protein is.
Some people with mild hemophilia may not even know they have the disease until adulthood. Minor injuries may not cause any noticeable problem. It may take a major trauma or surgery to cause enough bleeding that the problem becomes known.
On the other hand, someone with severe hemophilia may frequently bleed without any known reason or injury. This is called "spontaneous" bleeding. Sometimes this type of bleeding occurs in a joint, like the knee or elbow, which can be quite painful.
Symptoms of hemophilia may include:
- Bruising, especially a large, lumpy bruise
- Bleeding for no known reason
- Blood in the urine or stool
- Bleeding that does not stop after getting a cut, having a tooth out, getting an injury to the mouth or having surgery
- Bleeding that does not stop after circumcision
- Bleeding into a joint, which can cause tightness, swelling and pain
If your child seems to have a bleeding problem, the doctor will ask questions about your child's bleeding and about your family history of unusual bleeding or bruising. The doctor will also examine your child to look for any other signs of health problems.
Blood tests will show your child's levels of Factor VIII and Factor IX. The doctor can tell you whether the hemophilia is mild, moderate or severe based on the levels of these clotting factors. This is the standard breakdown:
- Mild - Your child has 5% to 30% of the normal level of Factor VII or IX.
- Moderate - Your child has 1% to 5% of the normal level.
- Severe - Your child has less than 1% of the normal level.
The level of clotting factor gives you a basic idea of how severe your child's symptoms might be - with less severe symptoms occurring in people who have higher levels of clotting factor. But they lines are not always clear. Some people with "mild" hemophilia have more severe symptoms than others.
Talk with your child's doctor to get a better idea of what the diagnosis means for your child.