Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene

Haematologica. 2007 Nov;92(11):1583-4. doi: 10.3324/haematol.10693.

Abstract

Approximately 3% of hemophilia B patients have major deletions in the F9 gene, half of which are complete. Marker and quantitative PCR analyses were employed for carrier diagnosis in a family of a mentally retarded hemophilia B patient with a total deletion of the F9 gene and neighbor genes. Both methodologies allowed the confirmation of carrier or non-carrier status.

Publication types

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

MeSH terms

  • Adult
  • Biomarkers / blood
  • Factor IX / genetics*
  • Gene Deletion
  • Genetic Carrier Screening / methods*
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Polymerase Chain Reaction

Substances

  • Biomarkers
  • Factor IX