Since men with the genetic mutation will have hemophilia, a man who does not have the condition cannot be a carrier of the disease. A woman who has a son with known hemophilia is termed an obligate carrier, and no testing is needed to establish that she is a carrier of hemophilia.
Women whose carrier status is unknown can be evaluated either by testing for the clotting factors or by methods to characterize the mutation in the DNA. The DNA screening methods are generally the most reliable.
natal diagnosis is also possible with DNA-based tests performed on a sample obtained through amniocentesis or chorionic villus sampling. Most individuals are seen and tested by consultants who specialize in genetically linked diseases.
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