The molecular basis of haemophilia A.
The cloning and isolation of the human factor VIII (FVIII) gene in the mid-1980s has lead to 10 years of increasing understanding of the genetic and hence the molecular basis of haemophilia A. These studies are not only of enormous potential benefit for accurate carrier detection and prenatal diagnosis in families with haemophilia A, but provide insights into the relationships between genetic defects and their clinical manifestations. These latter studies not only explain and even predict the severity of the disease but may also help towards a better understanding of the basis of inhibitor development.
Peake
I
I
Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK. I.R.Peake@sheffield.ac.uk
D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009154:Mutation
D005169:Factor VIII