Non–transfusion-dependent β-Thalassemia Because of a Single β-Thalassemia Mutation and Coinherited α-Globin Gene Triplication Need for Increased Awareness to Prevent Incorrect and Delayed DiagnosisGurunathan, Arun MD*; Tarango, Cristina MD*,†; McGann, Patrick T. MD, MS*,†; Niss, Omar MD*,†; Quinn, Charles T. MD, MS*,†,‡Journal of Pediatric Hematology/Oncology: April 08, 2019 - Volume Publish Ahead of Print - Issue - p doi: 10.1097/MPH.0000000000001470 Clinical and Laboratory Observations: PDF Only Buy PAP Abstract Author InformationAuthors Article MetricsMetrics The thalassemias are genetically complex and usually autosomal recessive. We describe 5 unrelated individuals with non–transfusion-dependent β-thalassemia (NTDT), some with apparently dominant transmission, because of a single β-thalassemia mutation coinherited with a triplicated α-globin locus. Each had an initial, incorrect diagnosis of β-thalassemia trait. The correct diagnosis of NTDT was made at a mean of 7 years of age. Despite reports of this compound genotype causing NTDT, it remains unfamiliar to many clinicians. To increase awareness, we highlight its varied and sometimes subtle clinical and laboratory features and the need for comprehensive genetic testing for timely and correct diagnosis. *Division of Hematology ‡Erythrocyte Diagnostic Laboratory, Cincinnati Children’s Hospital Medical Center †Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH The authors declare no conflict of interest. Reprints: Arun Gurunathan, MD, 3333 Burnet Avenue Cincinnati, OH 45229 (e-mail: firstname.lastname@example.org). Received December 15, 2018 Accepted March 5, 2019 Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.