What is thalassaemia?
Thalassaemia refers to a group of rare genetic blood disorders, estimated to affect 1 per 100,000 people worldwide. The two most common types of thalassaemia include alpha-thalassaemia and beta-thalassaemia that can exist in three different forms of severity (minor, intermediate and major).1,2
The degree of transfusion dependence can also be used to classify the types of thalassaemia, which includes:2
- Transfusion-dependent thalassaemia
- Non-transfusion-dependent thalassaemia
All forms of the condition affect how the body produces healthy haemoglobin (an essential protein used to carry oxygen in RBCs). This results in the low production of RBCs and can limit the oxygen levels in the blood, leading to several health problems.3
What are the symptoms of thalassaemia?
Symptoms can vary depending on the severity of the condition. Minor forms of thalassaemia can cause mild anaemia or show no symptoms. However, severe forms of thalassaemia can cause severe anaemia, slowed growth and enlargement of the liver or heart.3
Treatment of thalassaemia and the risk of iron overload
The type of therapy used to treat thalassaemia can vary depending on severity and classification:2
- In transfusion-dependent thalassaemia, repeated blood transfusions are used to counteract the low levels of healthy RBCs in the blood. Because of this, patients are at risk of iron overload.2
- In non-transfusion-dependent thalassaemia, patients can develop iron overload independently of repeated blood transfusions.2 This is mainly due to increased absorption of dietary iron in response to low blood cell counts.4
Iron overload in thalassaemia and how it can be treated
Iron overload can lead to serious health implications such as heart, liver and hormone complications.5 In order to help control the build-up of excess iron in thalassaemia patients, doctors can suggest the use of iron chelators.
Abbreviation: RBC, red blood cell.
- Galanello R and Origa R. Beta-thalassemia. Orphanet J Rare Dis 2010;5:11.
- 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.
- National Center for Advancing Translational Sciences. Thalassaemia. Available at: https://rarediseases.info.nih.gov/diseases/7756/thalassemia. Date accessed: February 2020.
- EXJADE® film-coated tablets package leaflet.
- Lambing A, et al. The dangers of iron overload: Bring in the Iron Police. J Am Acad Nurse Pract 2012;24(4):175–183.