A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.

CONCLUSIONS: We identified a novel frameshift variant of β-thal. NGS has the potential for identifying rare and novel thalassemia variants and broadening the spectrum of thalassemia screening and thus may contribute to effective prevention of thalassemia. PMID: 33191878 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research