Whole F8 gene sequencing identified pathogenic structural variant in the remaining unsolved patients with severe Haemophilia A

CONCLUSION: All the genetically unsolved severe haemophilia A of this cohort were due to structural variant disrupting the F8. This study highlighted the effectiveness of whole F8 sequencing to improve the molecular diagnosis of HA when the conventional approach has failed.PMID:38484912 | DOI:10.1016/j.jtha.2024.03.002

Source: Thrombosis and Haemostasis - March 14, 2024 Category: Hematology Authors: Yohann Jourdy Nicolas Chatron Mathilde Fr étigny Christophe Zawadzki Anne Lienhart Natalie Stieltjes Pierre-Simon Rohrlich Christel Thauvin-Robinet Fabienne Volot Yasmine Ferhat Hamida Ghania Hariti Alexandre Leuci Yesim Dargaud Damien Sanlaville Christi Source Type: research