Hemophilia Genetic Testing and Counseling

Hemophilia is caused by a genetic mutation. About 70 percent of people with hemophilia inherit the defective gene from their mother. The other 30 percent develop it from a spontaneous genetic mutation that was not passed down in the family.

Your child’s provider may recommend genetic testing to:

• Identify which gene is mutated, information that can help guide the treatment plan and risk for inhibitor development
• Discover whether female family members carry the gene and are likely to pass it on to their children

After genetic testing results are back, you and your family will meet with an experienced genetics counselor from the Hemophilia and Bleeding Disorders Program. The counselor can:

• Explain what the test results mean for your child and your family
• Provide hemophilia-related resources
• Identify other families members that may be at risk for having hemophilia
• Share information about any recent developments in the field of genetics of hemophilia>