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Guidelines for the Management of Patients with Beta-Thalassemia Major present meaningful variations among countries

April 16, 2013

Acta Haematologica

The clinical guidelines are documents that aid medical professionals in decision making. When it comes to rare diseases, it is difficult to find devoted international clinical guidelines. For this reason four authors, including the ENERCA partners Dr. Michael Angastiniotis and Dr. Androulla Eleftheriou, from the Thalassaemia International Federation (TIF), and Dr. John B. Porter, from the Department of Haematology at the University College London, overviewed currently available guidelines for the management of Beta-Thalassaemia Major and explored apparent similarities and differences between them. Dr.Khaled M. Musallam, from the University of Milan, was the first author of the review. Although the work published in Acta Haematological did not identify differences warranting concern, some meaningful variations were observed.

The clinical guidelines include all kind of recommendations that summarize updated knowledge to achieve the best outcomes in patient management. Most frequent diseases have devoted guidelines to ensure a proper treatment. The more common the disease, the easier to find international consensus documents joining efforts from different countries to design common recommendations.

Beta-Thalassaemia Major is a recessive hereditary disorder of haemoglobin, a major component of the red blood cells. In patients suffering this severe disease, haemoglobin is produced at a reduced rate. The fact that it is recessive means two people who carry one copy of the mutated gene each have a 25% risk of having a child affected by a severe disorder at each pregnancy. 

Biomedical research has provided evidence supporting the need of safe and careful processing measures of blood products, the efficacy and safety of oral iron chelators, and noninvasive techniques for the assessment of iron overload. These advancements were translated into better clinical practice of Beta-Thalassaemia Major through the construction of management guidelines. Still, several aspects of the management of the disease remain controversial and the availability of diagnostic and treatment modalities may vary by region. Such concerns are largely relevant to physicians treating Thalassaemia Major patients outside countries where the guidelines were constructed.

The review published by the ENERCA partners compared the Thalassaemia International Federation (2008), US (2009), Canadian (2009), UK (2008), Italian (2008) and Australian (2011) guidelines. According to the authors, these reference publications contained a general consensus for most aspects of management, although some guidelines provided more comprehensive and contemporary recommendations than others. Minor differences in iron overload assessment strategy and more notable variations in the recommendations for iron chelation therapy were observed.

The ENERCA Network and all its partners are devoted to work towards a more comprehensive approach to rare anaemias. Documents like the review published in Acta Haematologica or the White Book for the creation of a European Research Network (ERN) for Rare Anaemias (RA) are initiatives in the right direction.

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