The DOI matches its Crossref record; 88 of the 88 references it cites were found in a registry or an index.
How I treat thalassemia
Abstract
The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including β-thalassemia intermedia and β-thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use of very small fetal DNA samples to detect single point mutations with great reliability for prenatal diagnosis of homozygous thalassemia. In our description of treatment strategies, we focus on how we deal with clinical manifestations and long-term complications using the most effective current treatment methods for β-thalassemia. The discussion of disease management focuses on our use of transfusion therapy and the newly developed oral iron chelators, deferiprone and deferasirox. We also deal with splenectomy and how we manage endocrinopathies and cardiac complications. In addition, we describe our use of hematopoietic stem cell transplantation, which has produced cure rates as high as 97%, and the use of cord blood transplantation. Finally, we briefly touch on therapies that might be effective in the near future, including new fetal hemoglobin inducers and gene therapy.
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Citations
Cites
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Cavazzana-Calvo, M., Payen, E., Negre, O., Wang, G., Hehir, K., Fusil, F., Down, J., Denaro, M., Brady, T., Westerman, K., et al. (2010) · Nature · doi:10.1038/nature09328 · Cited by 1,276
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Rund, D., & Rachmilewitz, E. (2005) · New England Journal of Medicine · doi:10.1056/nejmra050436 · Cited by 939
Self-citationThe inherited diseases of hemoglobin are an emerging global health burden
Weatherall, D. J. (2010) · Blood · doi:10.1182/blood-2010-01-251348 · Cited by 903
High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
Tanno, T., Bhanu, N. V., Oneal, P. A., Goh, S.-H., Staker, P., Lee, Y. T., Moroney, J. W., Reed, C. H., Luban, N. L., Wang, R.-H., et al. (2007) · Nature Medicine · doi:10.1038/nm1629 · Cited by 854
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Cardiac T2* Magnetic Resonance for Prediction of Cardiac Complications in Thalassemia Major
Kirk, P., Roughton, M., Porter, J. B., Walker, J. M., Tanner, M. A., Patel, J., Wu, D., Taylor, J., Westwood, M. A., Anderson, L. J., et al. (2009) · Circulation · doi:10.1161/circulationaha.109.874487 · Cited by 597
Cited by
Kell, D. B., & Pretorius, E. (2014) · Metallomics · doi:10.1039/c3mt00347g · Cited by 667
Biomarkers of Oxidative Stress and Antioxidant Defense
Demirci-Çekiç, S., Özkan, G., Avan, A. N., Uzunboy, S., Çapanoğlu, E., & Apak, R. (2022) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2021.114477 · Cited by 587
Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β A(T87Q) - Globin Gene
Negre, O., Eggimann, A.-V., Beuzard, Y., Ribeil, J.-A., Bourget, P., Borwornpinyo, S., Hongeng, S., Hacein-Bey, S., Cavazzana, M., Leboulch, P., et al. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.007 · Cited by 159
Piga, A., Perrotta, S., Gamberini, M. R., Voskaridou, E., Melpignano, A., Filosa, A., Caruso, V., Pietrangelo, A., Longo, F., Tartaglione, I., et al. (2019) · Blood · doi:10.1182/blood-2018-10-879247 · Cited by 119
Metadata
- Authors
- Rachmilewitz, E. A., & Giardina, P. J.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2011-09-29
- Volume
- 118
- Issue
- 13
- Pages
- 3479-3488
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2089876393
- Cited by
- 417
- References
- 88
- FWCI
- 9.68
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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