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Those associated with beta thalassaemia syndromes include complications related to osteoporosis and diabetes.
The name of the thalassaemia re-ects the globin chain whose synthesis is either diminished or non-existent.
As a general rule, patients with thalassaemia syndromes are at increased risk of iron overload.
A blood film from a patient with the thalassaemia trait is largely indistinguishable from that of a patient with iron deficiency.
Despite the plethora of muations in thalassaemia, some general points can be made.
In severe forms of thalassaemia, patients are dependent on transfusions for survival.
Below, we explore investigations into treatments that are being aimed at the underlying pathophysiology of thalassaemia, including new advances in chelation.
Figure 1 represents the main mechanisms causing iron overload in thalassaemia.
If the thalassaemia trait is present, younger family members may require genetic counselling.
There was high-level transduction with a complete correction of the in vitro model of human thalassaemia erythropoiesis and in vivo in immune-deficient mice.