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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Detalles Bibliográficos
Autores principales: Rizzuto, Valeria, Koopmann, Tamara T., Blanco-Álvarez, Adoración, Tazón-Vega, Barbara, Idrizovic, Amira, Díaz de Heredia, Cristina, Del Orbe, Rafael, Pampliega, Miriam Vara, Velasco, Pablo, Beneitez, David, Santen, Gijs W. E., Waisfisz, Quinten, Elting, Mariet, Smiers, Frans J. W., de Pagter, Anne J., Kerkhoffs, Jean-Louis H., Harteveld, Cornelis L., Mañú-Pereira, Maria del Mar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893112/
https://www.ncbi.nlm.nih.gov/pubmed/33613322
http://dx.doi.org/10.3389/fphys.2021.628236

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