Review Series GENOME SEQUENCING AND ITS IMPACT ON HEMATOLOGY Genetic sequence analysis of inherited bleeding diseases

The coagulation factor genes were among the first to be cloned and sequenced, beginning in the early 1980s. Now, in 2013, the detailed genetic structure of all of the identified constituents of the hemostatic process is well documented. The purpose of this minireview is to highlight current knowledge and the potential translational utility of genetic sequence information for 3 categories of bleeding disease: (1) the common inherited bleeding disorders, hemophilia A, B, and von Willebrand disease (VWD); (2) the rare inherited coagulation factor deficiencies; and (3) inherited platelet disorders resulting in a bleeding phenotype. In light of the varying lengths of time since the initial genetic characterization of these various components of the hemostatic system, the extent of detailed information presented in this review is similarly variable.