[Hemophilia A: molecular biology and carrier diagnosis]

Within this review we give an overview of haemophilia A research concentrating on molecular biology and carrier diagnosis. Haemophilia A, located on X-chromosome and transmitted recessively, is caused by deficiency or functional abnormality of coagulation factor VIII.

For this review we used original papers as main sources, but also review articles as well as study results of our group.

This review describes factor VIII synthesis and its posttranslational modification, and it discusses the known functional domains of factor VIII protein on the basis of mutations identified and protein studies. Additionally, the significance of mutations concerning carrier diagnosis of haemophilia A affected families is described.

Only a few functional domains within factor VIII protein are found, so far. Using newly available prescreening methods, mutations are now identified within factor VIII gene in about 60% of all patients studied. This is an excellent completion of the already available carrier diagnosis by polymorphisms and factor VIII coagulation data.

The new mutations identified using prescreening methods will improve the results of factor VIII protein studies. In spite of this progress, mutation screening should be intensified, thus allowing to diagnose each female who could be a carrier of haemophilia A.