Three novel point mutations causing haemophilia A

Haemophilia. 2002 Sep;8(5):715-8. doi: 10.1046/j.1365-2516.2002.00661.x.

Abstract

Haemophilia A is an X-linked bleeding disorder caused by mutations in the factor VIII gene. In our efforts to elucidate molecular defects in the haemophilia A patients from the Republic of Macedonia, we employed nonradioactive single-strand conformation polymorphism analysis followed by direct sequencing, for identifying point mutations in the factor VIII gene. In the present study we report the detection of three novel missense mutations: Met19 --> Arg; Ala78 --> Pro and Cys2174 --> Gly, all causing haemophilia A.

Publication types

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

MeSH terms

  • Adolescent
  • Albania
  • Child
  • Factor VIII / genetics*
  • Female
  • Hemophilia A / genetics*
  • Heterozygote
  • Humans
  • Male
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • Factor VIII