title: Homozygous expression of haemophilia B in a heterozygote.
abstract: A case of clinically severe haemophilia B in a woman is described. In 1977 she was delivered of a healthy male child, showing that she is heterozygous for the haemophilia gene. This seems to be the first report of a proven heterozygote with the homozygous expression of severe haemophilia.
mesh_terms: D000328:Adult; D001780:Blood Coagulation Tests; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D011247:Pregnancy