Advances in carrier detection in haemophilia

Summary. Increasing worldwide use of molecular genetic analysis is enabling accurate carrier detection for the haemophilias to be made more widely available. Use of DNA polymorphisms in linkage analysis is an accurate method for carrier detection applicable to the majority of families. For those families with severe haemophilia A, the inversion mutation can be sought by most molecular genetics laboratories. For families remaining uninformative by these procedures, a range of point mutation screening techniques is available. Dedicated electrophoresis equipment is enabling use of these techniques to become more widespread.