Homozygous expression of haemophilia B in a heterozygote

Acta Med Scand. 1978;204(3):231-4. doi: 10.1111/j.0954-6820.1978.tb08429.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blood Coagulation Tests
  • Female
  • Hemophilia B / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Pregnancy