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.
Prenatal 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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