Clinical Review

Diagnosis and management of thalassaemia

BMJ 2012; 344 doi: http://dx.doi.org/10.1136/bmj.e228 (Published 25 January 2012) Cite this as: BMJ 2012;344:e228
  1. M Peters, consultant paediatric haematology1,
  2. H Heijboer, paediatric haematologist1,
  3. F Smiers, paediatric haemato-oncologist2,
  4. P C Giordano, clinical biochemical molecular genetics emeritus associated professor3
  1. 1Department of Paediatric Haematology, Emma Children’s Hospital, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands
  2. 2Department of Paediatrics, Haematology Oncology and Bone Marrow Transplant Unit, Leiden University Medical Centre, Leiden, Netherlands
  3. 3Haemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre
  1. Correspondence to: M Peters m.peters{at}amc.uva.nl
  • Accepted 28 December 2011

Summary points

  • The changing demographic features of thalassaemia, with its widely variable phenotypes, have implications for diagnosis, counselling, and management

  • Carriers of thalassaemia require no specific treatment but should be protected from iron supplementation, which may be detrimental

  • Antenatal and neonatal screening for thalassaemia may reduce the number of severely affected children

  • Monitoring iron overload and chelation therapy in transfusion dependent thalassaemia patients is essential to prevent fatal cardiomyopathy and liver cirrhosis

  • The only potential cure for β thalassaemia is hematopoietic stem cell transplantation.

Increasing global migration has resulted in wider dispersal of people at risk of hereditary anaemias. As a result, haemoglobinopathies are becoming increasingly prevalent in countries where these diseases are not endemic. The treatment of thalassaemia major and intermedia has traditionally depended on preventing undesirable outcomes of disease, using transfusion therapy along with iron chelation. The only cure for the disease is stem cell transplantation. However, this is a complicated procedure, with better outcomes when offered at young ages, which strengthens the desirability of screening newborns in high risk populations. Multidisciplinary management of thalassaemia is recommended by international guidelines. Antenatal prevention programmes consist of identifying and counselling couples who carry the relevant genes, and offering them different options to prevent having a child with thalassaemia. In this review we summarise diagnostic, treatment, and prevention options in thalassaemia for generalist readers.

Sources and selection criteria

We searched PubMed, the Cochrane Library, and Medline up to October 2011 and found several randomised controlled trials and cohort studies as well as international guidelines. We used the following search terms: thalassaemia major, thalassaemia intermedia, β thalassaemia, α thalassaemia, HbH disease, neonatal screening, iron overload, chelation therapies, deferoxamine, exjade, deferiprone, splenectomy, stem cell transplantation, hydroxyurea.

What is thalassaemia?

The thalassaemias are a group of recessively autosomal inherited conditions characterised by decreased or absence of synthesis of one of the two polypeptide …

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