Severe haemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.

CONCLUSION: we characterized a novel genomic rearrangement in which a 3.8Mb Xq11.1q12 gain inserted in the F8 intron 25 led to an aberrant fusion transcript in a patient with severe HA, using comprehensive molecular techniques. This study highlights the value of single molecule long-read sequencing technologies for molecular diagnosis of HA especially when conventional genetic approaches have failed. This article is protected by copyright. All rights reserved. PMID: 31021037 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research