Clinical Classification, Screening, and Diagnosis in Beta-Thalassemia and Hemoglobin E/Beta-Thalassemia.

This article reviews the classification of beta-thalassemia syndromes, correlating clinical severity and genotype in the earlier classification, and broadening it recently based on clinical severity and transfusion status. The classification is dynamic, and individuals may progress from transfusion-independent to transfusion-dependent. Early and accurate diagnosis prevents delays in instituting treatment and comprehensive care, and precludes inappropriate and potentially harmful interventions. Screening can inform risk in an individual and subsequent generations when partners may be carriers as well. This article discusses the rationale for screening of the at-risk population. In the developed world, a more precise genetic diagnosis must be considered. Copyright © 2022 Elsevier Inc. All rights reserved.

Citation

Morgan Pines, Sujit Sheth. Clinical Classification, Screening, and Diagnosis in Beta-Thalassemia and Hemoglobin E/Beta-Thalassemia. Hematology/oncology clinics of North America. 2023 Apr;37(2):313-325

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PMID: 36907605

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