Thalassaemia

Abstract

Thalassaemias are among the most common genetic disorders worldwide; an estimated 1.5% of the global population carries a thalassaemia mutation. Originally associated with tropical and sub-tropical regions, migration has facilitated wider dispersal, concentrated in larger multi-ethnic conurbations. Thalassaemias are heterogeneous, ranging from asymptomatic to causing severe haemolytic anaemia with pan-corporal sequelae and complications. Carriers benefit from access to pre-conception and antenatal advice and screening. The National Health Service Antenatal Haemoglobinopathy Screening Programme has operated since 2001, but carrier diagnoses may still emerge incidentally. This article provides an overview of the genetics, presentation and management of thalassaemia.

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References

Cappellini MD, Farmakis D, Porter J, et al. (eds) (2021) Guidelines for the management of transfusion dependent thalassaemia, 4th edition. Available at: https://thalassaemia.org.cy/publications/tif-publications/guidelines-for-the-management-of-transfusion-dependent-thalassaemia-4th-edition-2021/ (accessed 22 September 2021).

Cappellini

Viprakasit

Taher

, et al. (2020) A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia. New England Journal of Medicine 382(13): 1219–1231. DOI: 10.1056/nejmoa1910182.

Foster MM (2020) National Haemoglobinopathy Registry. Annual data report 2019/20. Available at: www.nhr.nhs.uk (accessed 22 January 2021).

Frangoul

Altshuler

Cappellini

, et al. (2020) CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia. New England Journal of Medicine, 384(3): 252–260. DOI: 10.1056/NEJMoa2031054.

Galanello

Cao

(2011) Gene test review. Alpha-thalassemia. Genetic Medicine 13(2): 83–88. DOI: 10.1097/GIM.0b013e3181fcb46.

Herman M and Chaudhry S (n.d.) Thalassemia. McMaster pathophysiology review. Available at: www.pathophys.org/thalassemia/ (accessed 12 February 2021).

Karponi

Zogas

(2019) Gene therapy for beta-thalassemia: Updated perspectives. Application of Clinical Genetics 12: 167–180. DOI: 10.2147/TACG.S178546.

Origa

(2017) β-thalassemia. Genetic Medicine 19: 609–619. DOI: 10.1038/gim.2016.173.

Perkin E, Gill C and Coppinger C (2017) NHS sickle cell and thalassaemia screening programme handbook. Available at: www.gov.uk/government/publications/handbook-for-sickle-cell-and-thalassaemia-screening#history (accessed 26 January 2021).

10.

Piga

Perrotta

Gamberini

, et al. (2019) Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with b-thalassemia. Blood 133(12): 1279–1289. DOI: 10.1182/blood-2018-10-879247.

11.

RCGP. Clinical topic guide: Genomic medicine. Available at: www.rcgp.org.uk/training-exams/training/gp-curriculum-overview.aspx (accessed 06 June 2021).

12.

RCGP. Clinical topic guide. Haematology. Available at: www.rcgp.org.uk/training-exams/training/gp-curriculum-new/clinical-topic-guides/haematology.aspx (accessed 06 June 2021).

13.

Songdej D, Babbs C and Higgs DR (2017) An international registry of survivors with Hb Bart's hydrops fetalis syndrome. Blood 129(10): 1251–1259. DOI: 10.1182/blood-2016-08-697110.

14.

Taher A, Vichinsky E, Musallam K, et al. (eds) (2017) Guidelines for the management of non-transfusion dependent thalassaemia (NTDT), 2nd edition. Available at: https://thalassaemia.org.cy/publications/tif-publications/guidelines-for-the-clinical-management-of-non-transfusion-dependent-thalassaemias-updated-version/ (accessed 26 January 2021).

15.

Taher

Weatherall

Cappellini

(2018) Thalassaemia. The Lancet 13; 391(10116): 155–167. DOI: 10.1016/S0140-6736(17)31822-6.

16.

United Kingdom Thalassaemia Society (2016) Standards for the clinical care of children and adults with thalassaemia in the UK, 3rd edition. Available at: https://ukts.org/wp-content/uploads/2019/12/Standards-2016final.pdf (accessed 17 November 2020).

17.

Yang

Zhou

, et al. (2020) Thalidomide for patients with β-thalassemia: A multicenter experience. Mediterranean Journal of Hematology and Infectious Diseases 12(1): e2020021 DOI: 10.4084/MJHID.2020.021.

18.

Zhang

Amid

Janzen

, et al. (2021) Outcomes of haemoglobin Bart’s hydrops fetalis following intrauterine transfusion in Ontario, Canada. Archives of Disease in Childhood: Fetal and Neonatal Edition 106(1): 51–56. DOI: 10.1136/archdischild-2019-317626.