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Guidelines for the Management of Non Transfusion Dependent Thalassaemia (NTDT) [Internet].

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Nicosia, Cyprus: Thalassaemia International Federation; 2013.

Excerpt

The term thalassaemia intermedia describes a form of thalassaemia of intermediate severity between the major, transfusion-dependent forms of the disease and the symptomless carrier states. The term includes many different varieties of thalassaemia including the compound heterozygous state for mild and severe beta thalassaemia mutations or forms of homozygous beta thalassaemia in which genetic modifiers have reduced the severity of the disease, diseases like haemoglobin E beta thalassaemia due to the co-inheritance of a structural haemoglobin variant with beta thalassaemia, the compound heterozygous states for other structural variants such as haemoglobins S or C and beta thalassaemia and a heterogeneous group of forms of alpha thalassaemia that produce haemoglobin H disease of varying severity. The wide clinical variability of these conditions leads to major difficulties in their management. These problems have been magnified over recent years by the discovery that in many forms of thalassaemia intermedia there are a wide range of complications which tend to occur later in the lives of affected patients.

© 2013 Thalassaemia International Federation.

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