Haemophilia

Haemophilia

Haemophilia is a blood clotting disorder in which one of the essential clotting factors is deficient.

Haemophilia A, or Classical Haemophilia, is the most common form, and is due to the deficiency of factor VIII (8). Haemophilia B, or Christmas Disease, is due to the deficiency of factor IX (9).

In Australia there are approximately 2,000 males who have haemophilia. Haemophilia in females is very rare.

Bleeding is mostly internal. The deficiency in clotting factor produces a wide range of bleeding episodes, usually into the joints or muscles. These bleeding episodes, or “bleeds”, may occur spontaneously, or as a result of trauma or injury. The bleeding is stopped by infusion of the appropriate clotting factor by intravenous injection. If internal bleeding is not quickly stopped with treatment, it will result in pain and swelling. Over a period of time bleeding into joints and muscles can cause permanent damage such as arthritis, chronic pain and joint damage requiring surgery.

Haemophilia is an inherited condition and occurs in families, however in 1/3 of cases it appears in families with no previous history of the disorder. The haemophilia gene is passed down from parent to child through generations. Men with haemophilia will pass the gene on to their daughters but not their sons. Women who carry the haemophilia gene can pass the haemophilia gene on to their sons and daughters. Sons with the gene will have haemophilia. Some women and girls who carry the gene may also experience bleeding problems.

The diagrams below may assist in understanding this. The solid black males are those with haemophilia; the red and black females carry the gene.
Image describing haemophilia inheritance

Treatment is given by injecting the missing clotting factor into veins. With appropriate treatment haemophilia can be managed effectively.

For more information and frequently asked questions – click here - Haemophilia FAQ.

Download the HFA Haemophilia booklet (2009) - Haemophilia booklet [PDF, 1.6MB]

Click here for other HFA publications on haemophilia.

Last Updated: December 10, 2009