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Hemophilia A Carrier Status

Here is a message from Col. More at Elmendorf in Alaska:

Hi, we have a pregnant mom, having a boy, who says her dad has hemophilia.  I’m waiting for more history on that.  In the meantime I looked for ways to test the mom.  I found that if you run factor VIII and IX antigen and activity levels, antigen levels in carriers should be two times the factor VIII activity levels.  Do you know of a PCR test or other genetic test?

Thanks, Lucia

Laboratory Flight Commander
PACAF Laboratory Consultant
DSN  580-6511 
Hi, Lucia. It will probably work better to do a factor VIII antigen to von Willebrand factor (VWF) antigen ratio, especially during pregnancy as both are acute phase proteins that rise under the influence of estrogens. The results are presumptive, however. Definitive carrier testing requires molecular diagnosis to detect the specific mutations, in particular intron 22 inversion or else linkage analysis through restriction fragment length polymorphism methods. There is a good reference for this, Goodeve AC. Advances in carrier detection in haemophilia. Haemophilia 1998; 4: 358-64. Geo.

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