Thalassaemia Test

There are two types of thalassaemia: alpha thalassaemia and beta thalassaemia, which affect the alpha globin and beta globin protein chains, respectively. Each person has four alpha globin genes – two inherited from each parent – and two beta globin genes – one inherited from each parent. Thalassaemia can also be classified as minor, where the individual is a carrier of the thalassaemia gene but does not have the disease, or major, where the individual has developed the disease and requires treatment.

Thalassaemia symptoms vary based on whether the individual has minor or major thalassaemia, and the type (alpha or beta). General symptoms include:

• Anaemia - fatigue, breathlessness, pale skin, jaundice
• Enlarged spleen and liver
• Bone issues such as osteoporosis

In children with thalassaemia, additional symptoms can include:

• Stunted growth and delayed physical development
• Delayed puberty
• Bone deformities
• Frequent infections due to enlarged spleen

Children born with thalassaemia major usually experience severe anaemia throughout their lives, requiring regular blood transfusions. A bone marrow transplant may be considered a potential cure. In severe cases, particularly in alpha thalassaemia where all four alpha globin genes are affected, the condition can be fatal.

Blood Tests

Testing for thalassaemia usually involves a complete blood count to measure haemoglobin levels and detect any abnormalities in red blood cells. Haemoglobin electrophoresis, a test that separates the different types of haemoglobin in the blood, is also used to identify the presence and specific type of thalassaemia. Prenatal screenings are commonly performed to determine if a parent carries the thalassaemia gene or has the condition.