Thalassaemia refers to a group of inherited blood disorders, including alpha-thalassaemia and beta-thalassaemia, characterised by decreased or absent synthesis of normal Hb globin chains in RBCs.1 This is caused by molecular defects in the alpha-globin gene cluster or the beta-globin gene cluster. The imbalance of these globin chains leads to ineffective RBC production, resulting in chronic haemolytic anaemia and low levels of oxygen in the blood.1
The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 worldwide.2


Thalassaemia and the risk of iron overload1
In transfusion-dependent thalassaemia, iron overload is a consequence of repeated blood transfusions that are required to counteract the insufficient production of RBCs.
In non-transfusion-dependent thalassaemia, iron overload develops from increased intestinal iron absorption signalled by ineffective RBC production.
Abbreviation: RBC, red blood cell.
References
- Taher AT and Saliba AN. Iron overload in thalassemia: different organs at different rates. Hematology Am Soc Hematol Educ Program. 2017;2017(1):265–271.
- Galanello R and Origa R. Beta-thalassemia. Orphanet J Rare Dis 2010;5:11.