Thalassaemia
Abstract
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and β-thalassaemia, including the co-inheritance of β-thalassaemia with haemoglobin E resulting in haemoglobin E/β-thalassaemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption. The complications of iron overload, arising from transfusions that represent the basis of disease management in most patients with severe thalassaemia, might further complicate the clinical phenotype. These pathophysiological mechanisms lead to an array of clinical manifestations involving numerous organ systems. Conventional management primarily relies on transfusion and iron-chelation therapy, as well as splenectomy in specific cases. An increased understanding of the molecular and pathogenic factors that govern the disease process have suggested routes for the development of new therapeutic approaches that address the underlying chain imbalance, ineffective erythropoiesis, and iron dysregulation, with several agents being evaluated in preclinical models and clinical trials.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Transferrin saturation and serum ferritin coupled with genetic testing and non-invasive magnetic resonance imaging measurements of liver iron content define the nature and severity of iron loading in both hemochromatosis and thalassemia.
“Transferrin saturation (Tsat), i.e. the ratio of serum iron/total iron binding capacity and serum ferritin coupled with genetic testing and non-invasive magnetic resonance imaging measurements of liver iron content, define the nature and severity of iron loading in both hemochromatosis77 and thalassemia.110”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [110]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Preza, G. C., Ruchala, P., Pinon, R., Ramos, E., Qiao, B., Peralta, M. A., Sharma, S., Waring, A., Ganz, T., & Nemeth, E. (2011) · Journal of Clinical Investigation · doi:10.1172/jci57693 · Cited by 234 · see citing works
Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice
Gardenghi, S., Ramos, P., Marongiu, M. F., Melchiori, L., Breda, L., Guy, E., Muirhead, K., Rao, N., Roy, C. N., Andrews, N. C., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci41717 · Cited by 220 · see citing works
Ineffective erythropoiesis and regulation of iron status in iron loading anaemias
Camaschella, C., & Nai, A. (2016) · British Journal of Haematology · doi:10.1111/bjh.13820 · Cited by 172 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Iron metabolism and iron disorders revisited in the hepcidin era
Camaschella, C., Nai, A., & Silvestri, L. (2020) · Haematologica · doi:10.3324/haematol.2019.232124 · Cited by 734 · see citing works
Iron Homeostasis and Ferroptosis in Human Diseases: Mechanisms and Therapeutic Prospects
Ru, Q., Li, Y., Chen, L., Wu, Y., Min, J., & Wang, F. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01969-z · Cited by 724 · see citing works
A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia.
Cappellini, M. D., Viprakasit, V., Taher, A. T., Georgiev, P., Kuo, K. H. M., Coates, T., Voskaridou, E., Liew, H.-K., Pazgal-Kobrowski, I., Forni, G. L., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa1910182 · Cited by 332 · see citing works
Self-citationIron metabolism under conditions of ineffective erythropoiesis in β-thalassemia
Rivella, S. (2019) · Blood · doi:10.1182/blood-2018-07-815928 · Cited by 120 · see citing works
Oral ferroportin inhibitor ameliorates ineffective erythropoiesis in a model of β-thalassemia
Manolova, V., Nyffenegger, N., Flace, A., Altermatt, P., Varol, A., Doucerain, C., Sundstrom, H., & Dürrenberger, F. (2019) · Journal of Clinical Investigation · doi:10.1172/jci129382 · Cited by 98 · see citing works
Casu, C., Chessa, R., Liu, A., Gupta, R., Drakesmith, H., Fleming, R., Ginzburg, Y. Z., MacDonald, B., & Rivella, S. (2020) · Haematologica · doi:10.3324/haematol.2018.212589 · Cited by 50 · see citing works
Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data
Schipper, A., Rutten, M., van Gammeren, A., Harteveld, C. L., Urrechaga, E., Weerkamp, F., den Besten, G., Krabbe, J., Slomp, J., Schoonen, L., et al. (2024) · Clinical Chemistry · doi:10.1093/clinchem/hvae081 · Cited by 33 · see citing works
SARS-CoV-2 INFECTED PATIENTS: FROM A HEMATOLOGIST PERSPECTIVE: COVID-19 and Hematology
Kreidieh, F., & Temraz, S. (2020) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2020.078 · Cited by 7 · see citing works
- Authors
- Taher, A. T., Weatherall, D. J., & Cappellini, M. D.
- Affiliations
- American University of Beirut Medical Center (LB)
- University of Oxford (GB)
- University of Milan (IT)
- Corresponding author
- Taher, Ali T
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 391
- Issue
- 10116
- Pages
- 155-167
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W4211214940
- Cited by
- 807
- References
- 3
- Citations by year
- 2026: 92 · 2025: 101 · 2024: 109 · 2023: 109 · 2022: 93 · 2021: 120 · 2020: 87 · 2019: 62 · 2018: 30 · 2017: 3 · 2016: 1
- FWCI
- 7.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council (MC_UU_00016/12)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
- Keywords
- thalassemia, sickle cell disease, alpha-thalassemia, beta-thalassemia, hemoglobin E, ineffective erythropoiesis, chronic hemolytic anemia, iron overload, blood transfusion, iron chelation therapy, splenectomy, hypercoagulability, intestinal iron absorption, disease management, new drugs
- MeSH terms
- Humans, Thalassemia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
