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Hemophilia and genetic risk

Healthwise
By Robin Parks, MS

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The genetic factors that cause hemophilia are passed down through the X chromosome. Every male has one X chromosome and one Y chromosome. Every female has two X chromosomes. Males inherit a Y chromosome from their father and an X chromosome from their mother; females inherit an X chromosome from each parent.

The chance that a child will inherit hemophilia depends upon whether he or she inherits an affected gene from one or both parents. Hemophilia affects men almost exclusively. Females may be a carrier of the gene that causes hemophilia but will not usually have any signs or symptoms of the disease. A female who is a carrier usually has one defective gene on the X chromosome and one normal gene on the X chromosome. When she has a normal working chromosome, she won't have symptoms. She has a 50% chance of passing on the defective gene to her children. If a woman who is a carrier is affected by hemophilia, the symptoms are usually very mild. In rare cases, a woman gets a defective gene from both her mother and her father and is born with hemophilia.

Hemophilia can also develop when the gene that is responsible for producing clotting factors changes (mutates). In this case, hemophilia is not inherited; the person in whom the gene changes will be the first person in a family to have hemophilia or will be a carrier. The person may pass this gene down to any children that he or she has.

Hemophilia genetics
  Mother (X X) carries hemophilia gene. Mother (X X) does not carry hemophilia gene.
Father (X Y) has hemophilia. Sons will have a 50% chance of having hemophilia. Sons will not have hemophilia.
Daughters will have a 50% chance of having hemophilia; daughters who do not have hemophilia will be carriers. All daughters will be carriers of hemophilia.
Father (X Y) does not have hemophilia. Sons will have a 50% chance of having hemophilia. Sons will not have hemophilia.
Daughters will have a 50% chance of being carriers. Daughters will not have hemophilia.

See an illustration of the hemophilia inheritance pattern.

Credits

Author Robin Parks, MS
Editor Kathleen M. Ariss, MS
Associate Editor Pat Truman, MATC
Primary Medical Reviewer Anne C. Poinier, MD - Internal Medicine
Specialist Medical Reviewer Brian Leber, MDCM, FRCPC - Hematology
Last Updated August 20, 2007
Last Updated: 08/20/2007