Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

Hum Genet. 1988 May;79(1):86-8. doi: 10.1007/BF00291718.


Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14-26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15-18 and spanning about 13kb, was identified and characterized in one patient with anti-factor VIII antibodies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies / analysis
  • Chromosome Deletion*
  • DNA / genetics
  • DNA Restriction Enzymes
  • Exons
  • Factor VIII / genetics*
  • Factor VIII / immunology
  • Hemophilia A / genetics*
  • Humans
  • Mutation


  • Antibodies
  • Factor VIII
  • DNA
  • DNA Restriction Enzymes