The DOI matches its Crossref record; 100 of the 100 references it cites were found in a registry or an index.
Thalassaemia
Abstract
Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin chain production, leading to ineffective erythropoiesis, increased haemolysis, and deranged iron homoeostasis. The clinical phenotype shows heterogeneity, ranging from close to normal without complications to severe requiring lifelong transfusion support. Conservative treatment with transfusion and iron chelation has transformed the natural history of thalassaemia major into a chronic disease with a prolonged life expectancy, albeit with co-morbidities and substantial disease burden. Curative therapy with allogeneic haematopoietic stem cell transplantation is advocated for suitable patients. The understanding of the pathogenesis of the disease is guiding therapeutic advances. Novel agents have shown efficacy in improving anaemia and transfusion burden, and initial results from gene therapy approaches are promising. Despite scientific developments, worldwide inequality in the access of health resources is a major concern, because most patients live in underserved areas.
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Cites
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia
Frangoul, H., Altshuler, D., Cappellini, M. D., Chen, Y.-S., Domm, J., Eustace, B. K., Foell, J., de la Fuente, J., Grupp, S., Handgretinger, R., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2031054 · Cited by 1,962
Self-citationGlobal epidemiology of haemoglobin disorders and derived service indicators
Modell, B. (2008) · Bulletin of the World Health Organization · doi:10.2471/blt.06.036673 · Cited by 1,924
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
Canver, M. C., Smith, E. C., Sher, F., Pinello, L., Sanjana, N. E., Shalem, O., Chen, D. D., Schupp, P. G., Vinjamur, D. S., Garcia, S. P., et al. (2015) · Nature · doi:10.1038/nature15521 · Cited by 886
Taher, A. T., Weatherall, D. J., & Cappellini, M. D. (2018) · The Lancet · doi:10.1016/s0140-6736(17)31822-6 · Cited by 807
Cappellini, M. D. (2006) · Blood · doi:10.1182/blood-2005-08-3430 · Cited by 717
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E. J., Ribeil, J.-A., Hongeng, S., Magrin, E., Schiller, G. J., Payen, E., Semeraro, M., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1705342 · Cited by 684
Self-citationHepatic Iron Concentration and Total Body Iron Stores in Thalassemia Major
Angelucci, E., Brittenham, G. M., McLaren, C. E., Ripalti, M., Baronciani, D., Giardini, C., Galimberti, M., Polchi, P., & Lucarelli, G. (2000) · New England Journal of Medicine · doi:10.1056/nejm200008033430503 · Cited by 607
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
Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing
Leibowitz, M. L., Papathanasiou, S., Doerfler, P. A., Blaine, L. J., Sun, L., Yao, Y., Zhang, C.-Z., Weiss, M. J., & Pellman, D. (2021) · Nature Genetics · doi:10.1038/s41588-021-00838-7 · Cited by 583
Tanner, M. A., Galanello, R., Dessi, C., Smith, G. C., Westwood, M. A., Agus, A., Roughton, M., Assomull, R., Nair, S. V., Walker, J. M., et al. (2007) · Circulation · doi:10.1161/circulationaha.106.648790 · Cited by 482
Cited by
Tuo, Y., Li, Y., Li, Y., Ma, J., Yang, X., Wu, S., Jin, J., & He, Z. (2024) · eClinicalMedicine · doi:10.1016/j.eclinm.2024.102619 · Cited by 283
Metadata
- Authors
- Kattamis, A., Kwiatkowski, J. L., & Aydinok, Y.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2022-06
- Volume
- 399
- Issue
- 10343
- Pages
- 2310-2324
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W4281614053
- Cited by
- 313
- References
- 100
- FWCI
- 30.00
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kattamis, A., Kwiatkowski, J. L., & Aydinok, Y. (2022). Thalassaemia. The Lancet. https://doi.org/10.1016/s0140-6736(22)00536-0
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
