Causes of Hemophilia: An Introduction
Hemophilia is an inherited disease. Hemophilia is caused by a defect in one of the genes that determines how the body makes blood clotting factors 8 and 9. These genes are located on the X chromosomes, which determine whether a baby is a boy or girl.
Causes of Hemophilia: F8 and F9 Genes
Mutations in the F8 or F9 genes cause hemophilia. Mutations in the F8 gene cause
hemophilia A, while mutations in the F9 gene cause
hemophilia B.
The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, which lead to excessive bleeding that can be difficult to control.
Causes of Hemophilia: Understanding Chromosomes and Inheritance
Hemophilia is inherited in an X-linked recessive pattern.
A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, which is one of the two sex chromosomes.
Chromosomes come in pairs. Women have two X chromosomes, while men have one X and one Y chromosome. A woman is a "carrier" if she has a defective gene for factor 8 or factor 9 on one of her X chromosomes. She can pass the defective gene on to her children.
- If she has a son, there is a 1 in 2 chance (50 percent) that he will have hemophilia.
- If she has a daughter, there is a 1 in 2 chance (50 percent) that the daughter will be a carrier.
A man who has hemophilia cannot pass the disease on to his sons; however, all of his daughters will be carriers.
In very rare cases, a girl may be born with hemophilia. This can occur if her father has hemophilia and her mother is a carrier.
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