Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). The clinical picture of UHs is...

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Main Authors: Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld, Maria del Mar Mañú-Pereira
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Physiology
Subjects:
unstable hemoglobinopathies
dominant beta-thalassemia
next generation sequencing
whole exome sequencing
rare anemia disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2021.628236/full

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https://www.frontiersin.org/articles/10.3389/fphys.2021.628236/full

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