What is Thalassaemia & Sickle Cell Anaemia?

Thalassaemia and Sickle Cell Anaemia belong to a group of genetically inherited blood disorders often known as “haemoglobinopathies”. They are called haemoglobinopathies, since these disorders affect haemoglobin production in the red blood cells.

Haemoglobin is a protein in the blood cells that carries oxygen around our bodies and is made up of two very important protein chains Alpha (a) and Beta (b) globin.

Genetic haemoglobinopathies like thalassaemia and sickle cell anaemia, are passed on from parent and child through the genes. Genes carry information about human characteristics such as eye colour, hair colour and haemo(globin).

Some changes occur to genes, resulting in medical conditions. The globin genes carry information for individuals to make haemoglobin, however changes in the globin genes can result in the following:


Beta Thalassaemia Major: A severe anaemia requiring life-long treatment, including monthly blood transfusions.

Alpha Thalassaemia: Another severe anaemia, of which one type can be fatal for baby and dangerous for mother during pregnancy.

Sickle Cell Anaemia: A condition which may require regular blood transfusions. Extremely painful blockages of blood vessels occur throughout life due to changes in shape of the red blood cells (usually taking on the shape of small sickles or crescent moons).

Haemoglobin E: Usually a benign condition, but if inherited with beta thalassaemia or sickle cell, can result in severe condition requiring life-long treatment.

Haemoglobin H disease (HbH):  is a form of alpha thalassaemia in which moderately severe anaemia develops due to reduced formation of alpha globin chains. In this condition, as in the other forms of thalassaemia, there is an imbalance of globin chains needed to form haemoglobin.


It is estimated by the World Health Organisation (WHO) that globally, at least 5% of adults are carriers of a genetic haemoglobin condition.


For more information about thalassaemia, sickle cell anaemia and other genetic haemoglobinopathies please go to: http://tascsa.net.au/factsheets/#