P706: Challenges in molecular test interpretation in patients with prior gene therapy for beta-thalassemia and sickle cell disease: One laboratory's experience

Genetics in Medicine Open 2026 Open access

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Authors: Sara Brown, Benjamin Clyde, Kelsey R. Cone, Patti Krautscheid, Hunter Best, Makenzie L. Fulmer, Archana M. Agarwal
DOI: 10.1016/j.gimo.2026.104196
Cited by: 0

Abstract

Our laboratory confirmed with the clinician for Case 1 that the individual had undergone beti-cel gene therapy for beta-thalassemia major and the pathogenic HBB variants detected at lower VAF by MPS were the patient’s causative germline variants identified pre-therapy. Similarly, for Case 2, the clinician confirmed this individual received lovo-cel gene therapy for SCD.

Fields of Study & Subjects

Hemoglobinopathies and Related Disorders Genomics and Rare Diseases Lysosomal Storage Disorders Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104196–104196
Publication date
1 January 2026
Language
EN