Article
Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes.
Thrombosis and haemostasis - 1 Nov 1997
Schröder W, Wulff K, Wollina K, Herrmann F H
Abstract excerpt
Haemophilia B is a X-linked recessive bleeding disorder with an incidence of 1:25,000-30,000 male birth. Usually female carriers are clinically normal. Phenotypic expression of the disease in female carriers is extremely rare. We describe cytogenetically inconspicuous female identical twins both with factor IX levels below 2%, prolonged bleeding after venipuncture as well as haematomas after intramuscular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.