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Rizzuto V, Koopmann TT, Blanco-Álvarez A, et al. Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Front Physiol. 2021;12:628236doi: 10.3389/fphys.2021.628236.
Rizzuto, V., Koopmann, T. T., Blanco-Álvarez, A., Tazón-Vega, B., Idrizovic, A., Díaz de Heredia, C., Del Orbe, R., Pampliega, M. V., Velasco, P., Beneitez, D., Santen, G. W. E., Waisfisz, Q., Elting, M., Smiers, F. J. W., de Pagter, A. J., Kerkhoffs, J. H., Harteveld, C. L., & Mañú-Pereira, M. D. M. (2021). Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Frontiers in physiology, 12628236. https://doi.org/10.3389/fphys.2021.628236
Rizzuto, Valeria, et al. "Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases." Frontiers in physiology vol. 12 (2021): 628236. doi: https://doi.org/10.3389/fphys.2021.628236
Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, Santen GWE, Waisfisz Q, Elting M, Smiers FJW, de Pagter AJ, Kerkhoffs JH, Harteveld CL, Mañú-Pereira MDM. Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Front Physiol. 2021 Feb 05;12:628236. doi: 10.3389/fphys.2021.628236. eCollection 2021. PMID: 33613322; PMCID: PMC7893112.
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Front Physiol. 2021 Feb 05;12:628236. doi: 10.3389/fphys.2021.628236. eCollection 2021.

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

Frontiers in physiology

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

Affiliations

  1. Translational Research in Child and Adolescent Cancer - Rare Anemia Disorders Research Laboratory, Vall d'Hebron Research Institute, ERN-EuroBloodNet Member, Barcelona, Spain.
  2. Josep Carreras Leukaemia Research Institute, Badalona, Spain.
  3. Department of Medicine, Universitat de Barcelona, Barcelona, Spain.
  4. Department of Clinical Genetics, Leiden University Medical Center, ERN-EuroBloodNet Member, Leiden, Netherlands.
  5. Hematologic Molecular Genetics Unit, Hematology Department, Hospital Universitari Vall d'Hebron, ERN-EuroBloodNet Member, Barcelona, Spain.
  6. Oncohematologic Pediatrics Department, Hospital Universitari Vall d'Hebron, ERN-EuroBloodNet Member, Barcelona, Spain.
  7. Hematology Department, Hospital Universitario Cruces, Barakaldo, Spain.
  8. Red Blood Cell Disorders Unit, Hematology Department, Hospital Universitari Vall d'Hebron, ERN-EuroBloodNet Member, Barcelona, Spain.
  9. Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.
  10. Department of Pediatric Hematology, Leiden University Medical Center, Leiden, Netherlands.
  11. Department of Hematology, HAGA City Hospital, The Hague, Netherlands.

PMID: 33613322 PMCID: PMC7893112 DOI: 10.3389/fphys.2021.628236

Abstract

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 highly heterogeneous, inheritance pattern is dominant, instead of recessive as in more prevalent major Hb syndromes, and may occur

Copyright © 2021 Rizzuto, Koopmann, Blanco-Álvarez, Tazón-Vega, Idrizovic, Díaz de Heredia, Del Orbe, Pampliega, Velasco, Beneitez, Santen, Waisfisz, Elting, Smiers, de Pagter, Kerkhoffs, Harteveld and Mañú-Pereira.

Keywords: dominant beta-thalassemia; next generation sequencing; rare anemia disorders; unstable hemoglobinopathies; whole exome sequencing

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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