THE MOLECULAR-BASIS OF HEMOPHILIA-A

The cloning and isolation of the human factor vm (FVIII) gene in the m id-1980s has Lead to 10 years of increasing understanding of the genet ic and hence the molecular basis of haemophilia A. These studies are n ot only of enormous potential benefit for accurate carrier detection a nd prenatal diagnosis in families with haemophilia A, but provide insi ghts into the relationships between genetic defects and their clinical manifestations. These latter studies not only explain and even predic t the severity of the disease but may also help towards a better under standing of the basis of inhibitor development.