Diagnosis of two related carriers of severe haemophilia B with no family history

Haemophilia. 2000 May;6(3):195-7. doi: 10.1046/j.1365-2516.2000.00389.x.

Abstract

Haemophilia B is an X-linked disease affecting 1 in 30 000 males. Carrier diagnosis is usually carried out only in female relatives of haemophilic males, and the likelihood of discovering a carrier without a haemophilic male is very low. In this report we present the cases of two related women without a family history of haemophilia who were diagnosed as haemophilia B carriers. Following a minor haemorrhage in the proband, she and her mother were thought to be haemophilia B carriers because of a low factor IX level (16 and 23 IU dL-1, respectively; normal values >50 IU dL-1). The non-sense mutation C31118T, which is associated with severe haemophilia B, was detected in both women. This allowed us to diagnose them as being definite carriers of severe haemophilia B and give appropriate genetic counselling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Factor IX / metabolism
  • Family Health
  • Female
  • Genetic Carrier Screening*
  • Hemophilia B / diagnosis*
  • Hemophilia B / genetics*
  • Hemorrhage / etiology
  • Hemorrhage / genetics
  • Heterozygote
  • Humans
  • Pedigree
  • Point Mutation

Substances

  • Codon, Nonsense
  • Factor IX