Thalassaemia

Ali T. Taher, David J. Weatherall, Maria Domenica Cappellini

Research output: Contribution to journalArticle

70 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)155-167
JournalThe Lancet
Volume391
Issue number10116
DOIs
Publication statusPublished - 2018

Fingerprint

Thalassemia
Hemoglobin E
Iron
Erythropoiesis
Chelation Therapy
Iron Overload
Thrombophilia
Globins
Hemolytic Anemia
Intestinal Absorption
Sickle Cell Anemia
Splenectomy
Disease Management
Hemoglobins
Clinical Trials
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Taher, A. T., Weatherall, D. J., & Cappellini, M. D. (2018). Thalassaemia. The Lancet, 391(10116), 155-167. https://doi.org/10.1016/S0140-6736(17)31822-6

Thalassaemia. / Taher, Ali T.; Weatherall, David J.; Cappellini, Maria Domenica.

In: The Lancet, Vol. 391, No. 10116, 2018, p. 155-167.

Research output: Contribution to journalArticle

Taher, AT, Weatherall, DJ & Cappellini, MD 2018, 'Thalassaemia', The Lancet, vol. 391, no. 10116, pp. 155-167. https://doi.org/10.1016/S0140-6736(17)31822-6
Taher, Ali T. ; Weatherall, David J. ; Cappellini, Maria Domenica. / Thalassaemia. In: The Lancet. 2018 ; Vol. 391, No. 10116. pp. 155-167.
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