Thalassaemia, a term derived from the Greek thalassa (sea) and haima (blood), encompasses a group of autosomal-recessive conditions comprising of abnormalities in α- and β-globin synthesis. Resultant ineffective erythropoiesis and haemolysis causes anaemia with multiple secondary complications. Although the thalassaemias are largely managed in secondary care by transfusion, splenectomy, iron chelation and stem cell transplantation, GPs still have a significant role to play.
Get full access to this article
View all access options for this article.
References
1.
Borgna-PignattiC. (2007) Modern treatment of thalassaemia intermedia. British Journal of Haematology138(3): 291–304. doi: 10.1111/j.1365-2141.2007.06654.x.
2.
Cappellini, M. D., Cohen, A., Eleftheriou, A., Piga, A., Porter, J., & Taher, A. (2008). Guidelines for the clinical management of thalassaemia. Nicosia, Cyprus: Thalassaemia International Federation.
3.
CleggJ. B.WeatherallD. J. (1999) Thalassaemia and malaria: New insights into an old problem. Proceedings of the American Association of Physicians111(4): 278–82. doi: 10.1046/j.1525-1381.1999.99235.x.
4.
Fisher, S. A., Brunskill, S. J., Doree, C., Gooding, S., Chowdhury, O., & Roberts, D. J. (2013). Desferrioxamine mesylate for managing transfusional iron overload in people with transfusion-dependent thalassaemia. Cochrane Database of Systematic Reviews, 8, article no.:CD004450. doi: 10.1002/14651858.CD004450.pub3.
5.
Galanello, R. & Origa, R. (2010). Beta-thalassaemia. Orphanet Journal of Rare Diseases, 5, 11. doi: 10.1186/1750-1172-5-11.
6.
Modell, B., Kahn, M., Darlison, M., Westwood, M. A., Ingram, D., & Pennell, D. J. (2008). Improved survival of thalassaemia major in the UK and relation to T2 cardiovascular magnetic resonance. Journal of Cardiovascular Magnetic Resonance, 10(1), 42. doi: 10.1186/1532-429X-10-42.
7.
MuncieH. L.CampbellJ. S. (2009) Alpha and beta thalassaemia. American Family Physician80(4): 339–344. Retrieved from www.aafp.org/afp/2009/0815/p339.html.
8.
NeufeldE. J. (2006) Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassaemia major: New data, new questions. Blood107(9): 3436–3441. doi: 10.1182/blood-2006-02-002394.
9.
NHS Sickle Cell and Thalassaemia Screening Programme. (2008). Standards for the clinical care of children and adults with thalassaemia in the UK. Retrieved from http://sct.screening.nhs.uk/standardsandguidelines.
10.
NHS Sickle Cell and Thalassaemia Screening Programme. (2009). Testing algorithm for laboratory screening in low prevalence and high prevalence areas. Retrieved from http://sct.screening.nhs.uk/standardsandguidelines.
Peters, M., Heijboer, H., Smiers, F., & Giordano, P. C. (2012). Diagnosis and management of thalassaemia. British Medical Journal, 344, e228. doi: 10.1136/bmj.e228.
RyanK.BainB.WorthingtonD.JamesJ.PlewsD.MasonA.StreetlyA. (2010) Significant haemoglobinopathies: Guidelines for screening and diagnosis. British Journal of Haematology149(1): 35–49. doi: 10.1111/j.1365-2141.2009.08054.x.
WeatherallD. J.CleggJ. B. (2001) The thalassaemic syndromes, Oxford, UK: Oxford Blackwell Science.
21.
World Health Organisation. (1996). The global distribution of haemoglobin disorders, in terms of affected infants per 1000 births. Retrieved from www.who.int/genomics/public/Maphaemoglobin.pdf.
