Genetic testing in hemophilia B diagnostics

Abstract

Hemophilia B is genetically determined bleeding disorder caused by lack of or decrease plasma synthesis of coagulation factor IX (fIX). Commonly this disease is recognized based on the plasma clotting test results, in particular by measuring fIX coagulation activity. Molecular testing of factor IX gene should represent an integral part of modern hemophilia B diagnostics, because identification of the causative hemophilia B mutation gives the opportunity to preliminary assess the risk of fIX alloantibodies (inhibitor) formation and a clear-cut diagnosis of hemophilia B carrier status. This paper outlines the strategy for molecular diagnostics in hemophilia B including discussion of the most widely used molecular techniques.