Molecular genetics of coagulation factor VIII gene and hemophilia A

Thromb Haemost. 1995 Jul;74(1):322-8.


This review summarizes the structure of human coagulation factor VIII gene and its deduced protein sequence and the molecular etiology of hemophilia A in man. The gross DNA rearrangements including the common inversions of factor VIII (which account for about 45% of severe hemophilia A patients), and the point mutations are discussed. The functional consequences of certain missense mutations are illustrated.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Chromosome Inversion
  • DNA / genetics
  • Exons
  • Factor VIII / genetics*
  • Factor VIII / metabolism
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Point Mutation
  • Polymerase Chain Reaction


  • Factor VIII
  • DNA