Thalassaemia is a group of inherited blood disorders that disrupt the production of haemoglobin, a vital protein found in red blood cells. Haemoglobin enables red blood cells to transport oxygen throughout the body. When haemoglobin levels are insufficient, it leads to a condition called anaemia.
Haemoglobin consists of two main components: alpha globin and beta globin. Thalassaemia arises from mutations in the genes responsible for producing these globin chains.
There are two primary types of thalassaemia, classified based on the affected globin chain:
The severity of thalassaemia can vary depending on the specific gene mutations inherited. Some individuals may have mild symptoms, while others may experience more significant health challenges.
Alpha and Beta thalassaemia encompasses a range of severity levels, determined by the specific gene mutations inherited from one’s parents. Let’s explore the different forms:
Child with Alpha Thalassaemia Major has a very short life span. Due to the severe anaemia, they develop high cardiac-output cardiac failure which is fatal. Foetus with Beta Thalassaemia Major is able to make it to birth. This is the most severe form (Beta Thalassaemia Major), arising when an individual inherits two beta-globin genes with significant mutations, resulting in very little or no beta-globin production. This leads to severe anaemia, requiring regular blood transfusions from early childhood.
This form is less severe than transfusion-dependent thalassaemia. Individuals with this type experience anaemia and may require occasional blood transfusions, but not as frequently as those with the more severe form.
Individuals with thalassaemia trait typically don’t experience symptoms and may be unaware of their carrier status.
It’s important to note that individuals with any form of beta thalassaemia can pass on the mutated gene to their children. The severity of the condition in their offspring depends on the combination of genes inherited from both parents.
Symptoms of transfusion-dependent thalassaemia typically emerge a few months after birth and may include:
These symptoms arise from the body’s attempts to produce red blood cells in areas outside the bone marrow and from iron overload due to increased iron absorption and frequent blood transfusions.
A simple blood test can diagnose thalassaemia and determine its type. Multiple tests may be needed to assess the severity and genetic factors involved.
Treatment for transfusion-dependent beta thalassaemia typically involves:
Individuals with thalassaemia should:
Remember, staying informed, proactive, and engaged in your healthcare can significantly impact your well-being.
The information on the Centre For Clinical Haematology website is intended for educational use. It should not be considered or used as a substitute for medical advice, diagnosis or treatment from a qualified health professional.
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