The role of genetics in the diagnosis and treatment of haemorrhagic diathesis: a historical perspective

Abstract

 

The rapid development of genetic studies, not only in haemophilia but also in other congenital coagulopathies and platelet-related alterations, has been made possible by massive sequencing (e.g. next-generation sequencing or NGS), which allows a rapid and automatic analysis of the whole gene, simultaneous study of several genes and multiple individuals, detection of genetic variants and the possibility to create personalized panels [16]. The new technologies have also changed the way results are evaluated. Currently, our interest goes beyond the study of carriers, extending to the relationship between the mutation and the risk of developing an inhibitor and the latter's role in the classification of diseases [17]. There is also great interest in understanding the genotype/phenotype relationship, analytical discrepancies and variations in the response to treatment [18].