What causes hemophilia?
In most cases, hemophilia is inherited, resulting from changes to certain genes that control clotting factor production. The genes responsible — and the clotting factors they’re associated with — determine the type of hemophilia.
In rare cases, hemophilia is acquired, meaning people are not born with it. In these cases, hemophilia results from damage to clotting factor by immune system proteins. This type of hemophilia can occur during or immediately after pregnancy or when you have an autoimmune disorder and grow older. Sometimes the cause of acquired hemophilia is not known.
Hemophilia A, also called classic hemophilia, is the most common form. It’s caused by changes to the F8 gene, which controls clotting factor VIII.
Because the F8 gene sits on the X chromosome, severe disease typically gets passed down only to male children, who have only one X chromosome. Even then, just because a parent has hemophilia doesn’t mean it will automatically get passed on.
Females have two X chromosomes. If one has the F8 change that causes hemophilia, the other can still make normal clotting factor VIII. For a female child to inherit severe disease, both parents must have hemophilia, a very rare circumstance. However, females with one copy of the hemophilia A variant may still have symptoms and clotting factor low enough to be diagnosed with mild forms of hemophilia.
Women who have one copy of the factor VIII variant are called carriers; they can still pass the genetic change on to their children.
Hemophilia B is sometimes called Christmas disease, after the last name of the first child diagnosed with this condition. It’s caused by changes to the F9 gene, responsible for clotting factor IX.
Hemophilia B follows the same inheritance patterns as hemophilia A.
Hemophilia C is rarer than hemophilia A or B. It’s caused by changes to the F11 gene, which controls clotting factor XI.
Hemophilia C varies in other ways, too. Because the gene sits on a different chromosome, the condition gets passed down to both male and female children. For most patients, symptoms are mild.