Molecular genetics in haemophilia A

Efficient mutation screening methods have greatly facilitated the analysis of the factor VIII gene. The fast growing number of identified mutations has led to an increasing understanding of the genetics in haemophilia A. In combination with the recently generated molecular models of the factor VIII protein systematic studies of structural-functional relationships of the factor VIII protein have started. The knowledge of the causative gene defect has also become an important instrument in haemophilia care with respect to prediction of the patients' clinical course and safe genetic counselling of relatives.