Detection of the Carrier State for Classic Hemophilia

Abstract

Carriers of classic hemophilia may be detected by comparison of levels of antihemophilic factor as measured by clot-promoting assay (i.e., functionally active factor) and by quantitative immunoelectrophoresis (i.e., both functionally active and inactive factor). This technic has detected over 90 per cent of a group of known carriers. In addition, when applied to a group of 18 daughters of known carriers of hemophilia, the technic detected the carrier state in nine of these. In a second group of women, the mothers of hemophilic sons with no family history of the disorder, seven of 10 had evidence of the carrier state. Study of other members of these families suggested that mutation to the abnormal allele occurred on the X chromosome from which either the hemophilic patient or his mother arose.