Hemophilia
Hemophilia is the name for several hereditary genetic illnesses that impair the body’s ability to control bleeding. People with hemophilia have low or absent levels of clotting proteins such as Factor VIII (Hemophilia A), Factor IX (Hemophilia B), or Factor XI (Hemophilia C). Hemophilia A and B are sex-linked disorders and affect one in 7,000 boys born in the United States. Other more rare bleeding disorders include deficiencies of Fibrinogen, Prothrombin, Factor V, Factor VII, Factor X, and Factor XIII and may occur in both boys and girls.
Diagnosis
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.
Symptoms
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 late. 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
Treatment
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.
Additional Resources
Lonestar Chapter of the National Hemophilia Foundation
National Hemophilia Foundation
Hemophilia Federation of America
Centers for Disease Control and Prevention – Hemophilia