What is Hemophilia?

Hemophilia is a lifelong bleeding disorder that prevents blood from clotting properly. People with hemophilia do not have enough clotting factor, a protein in blood that controls bleeding. The severity of a person’s hemophilia depends on the amount of clotting factor that is missing.

A person with hemophilia does not bleed faster than anyone else, but bleeding may last longer. The main danger is uncontrolled internal bleeding that starts spontaneously or results from injury. Bleeding into joints and muscles can cause stiffness, pain, severe joint damage, disability, and sometimes death.

How do people get hemophilia?

Hemophilia is usually inherited and about one in every 5,000 males is born with the disorder. It cannot be caught or transmitted except through inheritance but can sometimes occur when there is no family history of hemophilia. About one third of new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of hemophilia in the family.

When the father has hemophilia but the mother does not, none of the sons will inherit hemophilia, but all of the daughters will carry the gene.

Women who have the hemophilia gene are called carriers, and they can pass it on to their children. When the mother is a carrier and the father does not have hemophilia, for each child there is a 50% chance that a son will have hemophilia and a 50% chance that a daughter will carry the gene.

What are the signs of hemophilia?

  • Big bruises;
  • Bleeding into muscles and joints, especially the knees, elbows, and ankles;
  • Sudden bleeding inside the body for no clear reason;
  • Prolonged bleeding after a cut, tooth removal, surgery, or an accident;
  • Serious internal bleeding into vital organs, most commonly after a serious trauma.

How is hemophilia treated?
Effective treatment for hemophilia is available, but as yet there is no cure. Hemophilia is treated by replacing the missing clotting factor in the blood. This is done by injecting a product that contains the needed factor into a vein. Bleeding stops when enough clotting factor reaches the affected area.

With proper treatment, people with hemophilia live relatively normal lives. Without treatment, most children with severe hemophilia will die young. An estimated 400,000 people worldwide are living with hemophilia. Only 25% receive adequate treatment.