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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 Diagnosis

Gurunathan, 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

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:

Received December 15, 2018

Accepted March 5, 2019

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