Patients with TDT require lifelong supportive care with regular red blood cell transfusions. Transfusion and iron chelation therapy have significantly improved the survival of TDT patients over the last few decades.1,2,3
Current guidelines from the Thalassaemia International Federation (TIF) recommend that transfusions be given every 2 to 5 weeks to correct anaemia, suppress ineffective erythropoiesis, and enable survival. An additional goal of transfusion therapy is the inhibition of iron absorption, which occurs in non-transfused patients as a consequence of increased (though ineffective) erythropoiesis.1,4
According to current TIF guidelines, regular transfusions should be considered in patients with Hb <7 g/dL on two occasions, >2 weeks apart; or in patients with Hb >7 g/dL who have other clinical symptoms like facial changes, poor growth, fractures, or clinically significant extramedullary haematopoiesis.1
Maintaining a Pretransfusion Level of 9-10.5 g/dL1
In patients with TDT, red blood cell transfusions are the main driver for iron overload, which can subsequently lead to multi-organ damage.1,2
In iron overload, transferrin becomes saturated, and iron that is not bound to transferrin (non-transferrin bound iron, or NTBI) accumulates in the plasma. This free iron is highly reactive and generates harmful free radicals, which can damage lipid membranes, organelles, and DNA, causing cell death and fibrosis. The distribution of NTBI and the pattern of tissue iron uptake determine the pattern of organ damage, with myocardial muscle, endocrine tissue, and hepatocytes taking up NTBI rapidly.1
Adapted from Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT).
3rd ed. Thalassaemia International Federation. 2014.
Transfusions temporarily relieve symptoms of anaemia, but do not address the underlying globin chain imbalance or restore normal erythropoiesis. They also introduce excess iron into the body, necessitating iron chelation therapy.1,4,6,7
The management of iron overload is centred around1
Iron monitoring is key to determining the extent of iron overload and establishing an effective iron chelation regimen in accordance with a patient’s individual needs. Current TIF guidelines recommend several methods to monitor iron levels:1,2,8,9
Chronic transfusion therapy, while effective, can lead to a range of complications.
Other complications include pain, growth failure, and bone disease.2
Take the β-Thalassaemia Challenge
Despite significant improvements in the survival of β-thalassaemia patients receiving transfusion and chelation therapy, the risk of cardiac-related mortality in men aged 30-39 has been reported to be:
A historical prospective study of 1044 Greek patients with transfusion-dependent β-thalassaemia found significantly improved mortality rates from 1990-1999 to 2000-2008 in people aged 20 to 40 compared to the general population (standard mortality ratios 28.9 and 13.5, respectively). However, mortality remained increased relative to the general population; in males aged 30-39, the risk of cardiac-related death was 57.4 times greater than in the general population.3
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