What causes Haemophilia?
Haemophilia is an inherited condition. The genes responsible for producing factor VIII and IX are on the X chromosome.
|Chance of a carrier having a son with haemophilia||Each of her sons will have a 50% (1 in 2) chance of having haemophilia|
|Chance of a carrier having a daughter who is a carrier||Each of her daughters will have a 50% (1 in 2) chance of being a carrier|
|Chance of a man with haemophilia having a son with haemophilia||None – unless the mother of his son is a carrier|
|Chance of a man with haemophilia having a daughter who is a carrier||All his daughters will be carriers|
Females have two copies of the X chromosome and males have one X chromosome and one Y chromosome. The mother produces an egg containing one X chromosome. The father produces sperm, which could contain either an X or a Y chromosome. The fusion of a sperm with an egg creates the embryo which will grow into a child which then has two sex chromosomes. If the father contributes his X chromosome, a girl is conceived. If he contributes his Y chromosome, a boy is conceived.
If a man has an altered haemophilia gene on his X chromosome, then he will be affected with haemophilia. If a female has an altered haemophilia gene on only one of her X chromosomes, then she is known as a carrier. The term carrier can be misleading because some females who are carriers of haemophilia may have significantly reduced factor levels, which means they have a mild form of haemophilia themselves. You may hear doctors use the term heterozygote instead of carrier. The pattern of inheritance is known as sex- or X-linked recessive.
In some cases of haemophilia there is no known family history. This may be because the alteration to the haemophilia gene is new, known as a spontaneous mutation, or that no affected males have been known in the family.
More information is available in our Understanding Haemophilia booklet.