ABSTRACT
A complex network of hemostasis proteins maintains the blood flow and integrity of
the vascular system. Molecular biology techniques have led to identification and cloning
of the corresponding genes, thereby providing the basis for development of various
recombinant clotting factor concentrates. Further analysis of these genes allowed
for phenotype and genotype correlations in patients with hemorrhagic or thromboembolic
disorders and analysis of structure and function relationships of the involved proteins.
All these efforts result in a greatly advanced understanding of the hemostatic network.
The aim of this article is to illustrate this progress by reporting on the recent
results in representative hereditary hemorrhagic and such thromboembolic conditions
as hemophilia, von Willebrand disease, and thrombotic disorders.
KEYWORD
Blood coagulation factors - factor VIII - hemophilia A - genotype-phenotype correlation
- structure-function relationships