Professor Dianna Milewcz, M.D., Ph.D., Director of the Division of Medical Genetics at the University of Texas Health Science Center at Houston (UTHealth), has been part of a study group identifying a rare genetic trait which causes a hemophilia-type blood disorder, present across multiple generations of an East Texan family. This family trait, originally identified in 1998, affects the ability of blood to clot following injury or surgery.
Results of the study, published this month in the Journal of Clinical Investigation, are the accumulation of collaborative research with UTHealth and the University of Lund, Malmo, Sweden.
In this study, Professor Milewcz’s group identified a variation in the gene encoding for protein factor V, which plays a vital role in the normal process of blood clotting. This genetic variation results in the production of an abnormal shortened version of the Factor V protein, called short FV.
In collaboration with Dr. Dahlbӓck, Professor of Blood Coagulation Research at Lund University and a world expert on Factor V, it was demonstrated that excessive production of short FV by these patients resulted in the formation of a complex with the tissue factor pathway inhibitor, (TFPI), a protein that also inhibits the coagulation of blood. Researchers have been looking at ways to inhibit TFPI, which could lead to the development of a successful treatment for this family’s blood clotting disorder.
Alongside work with Dr. Dahlbӓck, Dr, Milewcz commented that this work has provided significant insights on the mechanism of blood clotting. “We knew there was something wrong with Factor V in these patients, but proving it enabled the discovery of unique properties of FV in coagulation.” Dr Vincent, the primary author of this paper commented that “[a]fter many trials and tribulations, our true success is finally being able to provide an answer to the family about their medical issues.”
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