Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/65741
Title: Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success.
Authors: 
Mesh: 
Issue Date: 2020
Citation: J Pediatr Hematol Oncol.2020;(42)7:e686-e688
Abstract: Hereditary spherocytosis arises from alterations in the genes encoding red blood cell membrane proteins. Although its diagnosis is mostly clinical, recent advances in next-generation sequencing (NGS) technologies have allowed for a faster cost-effective gene-based diagnosis. We report the case of a boy with spherocytic anemia and development delay in whom a de novo 2.84-Mb deletion at chromosome 14 including SPTB (ß-spectrin gene) was identified by array-based comparative genomic hybridization. This alteration, consistent with de novo spherocytosis, was missed by a NGS gene panel. When associated with other symptoms, especially neurologic, NGS may not be appropriate to genetically diagnose spherocytic anemia.
PMID: 32079985
URI: https://hdl.handle.net/20.500.12530/65741
Appears in Collections:Hospitales > H. U. de Móstoles > Artículos

Files in This Item:
The file with the full text of this item is not available due to copyright restrictions or because there is no digital version. Authors can contact the head of the repository of their center to incorporate the corresponding file.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.