In honor of breakthrough research into identifying the genetic factors of thrombophilia, Dutch professor Rogier Bertina received the José Carreras Award during the European Hematology Association Congress, held June 7-10, 2007, in Vienna, Austria. Bertina heads the Laboratory for Coagulation Chemistry at the Medical University Center in Leiden, the Netherlands.
In 1994, while at the University Hospital in Leiden, Bertina and several colleagues identified the genetic mutation responsible for the most common inherited form of thrombophilia. The disorder was named factor V Leiden (FVL) for the city where it was discovered. Approximately 5% to 8% of the U.S. population has FVL. Identification of the gene was important because it carries instructions for two proteins that affect clotting: the clot-forming protein factor V and the clot-regulating protein activated protein C. Gene mutations can create an imbalance in the interaction of these proteins, predisposing individuals to either bleeding or excessive clotting.
"In a healthy body there is a fine balance in the flow of two sets of factors, namely on the one hand, the factors causing blood to coagulate quickly where need be to close a wound or prevent blood loss and on the other, factors inhibiting coagulation as long as there is no need for it," said Bertina. He said this balance can be "disrupted," triggering either hemorrhaging in bleeding disorder patients or abnormal clotting in thrombophilia patients.
There are equally important, nongenetic risk factors that contribute to excessive clotting such as obesity, cigarette smoking and immobilization and prolonged sitting, such as in lengthy plane flights. FVL patients who have other risk factors may experience thrombotic events such as deep-vein thrombosis (DVT). DVT, the most common thrombophilia-associated complication, occurs when a clot forms deep in the veins, typically in the lower extremities, such as the leg, thigh or hip area.
Bertina has written or co-authored articles that have been published in numerous scientific journals including Blood, Clinical Chemistry and the New England Journal of Medicine.
Source: Pharma-Lexicon.com, June 14, 2007