Summary
We have examined the problem of identifying carriers of hemophilia A by using three comparative studies: the human AHF-inhibitor-neutralization test, the rabbit anti-human AHF antiserum-neutralization test, and quantitative immunoelectrophoresis. Twelve out of 22 (54.5%) definite carriers could be distinguished on the basis of their VIII: C alone; 19 out of 22 (86%) could be detected on the basis of the ratio of VIII: C to VIII: AG at the 99% confidence limit, and 20 out of 22 (91%) could be detected if both were taken into account. It is concluded that consideration of the level of VIII: C as well as the ratio of VIII: C to VIII: AG is the most reliable means of detecting the carrier state. Application of this method to 16 probable and 14 potential carriers identified the carrier state in 11 and 9, respectively.
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Yoshioka, A., Fujimura, Y. & Yoshioka, K. A note on the carrier detection of hemophilia a. Jap J Human Genet 22, 261–270 (1977). https://doi.org/10.1007/BF01874070
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DOI: https://doi.org/10.1007/BF01874070