Genetic screening of children with suspected inherited bleeding disorders.
Nadine G AnderssonMaria RossingMarcus Fager FerrariMigle GabrielaiteEva LeinøeRolf C R LjungAnnika MårtenssonEva NorströmEva M K ZetterbergPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2020)
We conclude that performing genetic screening in children is an effective tool especially for children with inherited thrombocytopenia and has the possibility to diagnose platelet disorders adequately early in life. Children with bleeding diathesis, normal coagulation work-up and without thrombocytopenia are unlikely to be diagnosed by genetic screening. Ethical issues such as incidental findings, variants associated with cancer and the interpretation of the genetic results into clinical practice remain problematic.