What tests are performed for hemophilia A carrier and fetal screening?

Updated: Jan 14, 2019
  • Author: Douglass A Drelich, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of von Willebrand factor (vWF) antigen. A ratio that is less than 0.7 suggests carrier status.

Direct genetic testing for known gene mutation is more accurate. Linkage analysis by restriction fragment length polymorphism (RFLP) in multiple family members can be used. Direct mutation analysis is available in several laboratories for unknown FVIII mutations. Inversion of the FVIII gene can be detected by Southern blot.


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