Mutation reports: intron 1 and 22 inversions in Indian haemophilics

Ann Hematol. 2003 Sep;82(9):546-7. doi: 10.1007/s00277-003-0704-3. Epub 2003 Jul 22.

Abstract

Intron 1 and 22 inversions were looked for in 80 severe haemophilia A patients in India using PCR and multiplex Long-Distance Subcycling-PCR, respectively. Intron 1 inversion was seen in 3 (3.75%) and intron 22 inversion was seen in 35 (43.75%) patients. Of severe haemophilics, 47.5% had either of these inversions. It is thus suggested that screening for inversions may be the first step in genetic testing of Indian haemophilics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies / blood
  • Chromosome Inversion*
  • Factor VIII / analysis
  • Factor VIII / immunology
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • India
  • Introns*
  • Polymerase Chain Reaction

Substances

  • Autoantibodies
  • Factor VIII