Genomic sequencing leads to discovery of origin of hereditary east Texas bleeding disorder

A severe hereditary bleeding disorder was described in a large family from east Texas in 2001. The affected family members routinely had bruising, nosebleeds, massive blood loss following injury or surgery, and often required blood transfusions. Routine tests for functional components of the blood coagulation pathway did not reveal any obvious defects. Genomic sequencing revealed a mutation in the gene encoding coagulation factor 5 (FV), but it was not considered to contribute to disease, since clotting assays were normal...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Blood / Hematology Source Type: news