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What is thalassaemia?

Thalassaemia is the name given to a group of hereditary red blood cell disorders that involve haemoglobin production. People with thalassaemia have red blood cells that are poorly formed with a shortened life span. This requires people with the condition to have regular blood transfusions.

FAQ Frequently asked questions

What are the symptoms of thalassaemia?

Signs and symptoms of thalassaemia can include weakness, fatigue, jaundice (yellow colouring of skin), enlargement of organs, slow growth, failure to thrive, dark urine, abdominal swelling, and deformities of facial bones.

What causes thalassaemia?

Thalassaemia is a hereditary condition caused by gene mutations passed on from one or both of your parents.

Who gets thalassaemia?

Thalassaemia can affect both men and women. It is a hereditary condition that is passed down from one or both of your parents. Ethnicity can also be a risk factor: Alpha thalassaemia is more common among people of Asian descent, while beta thalassaemia is more common …

How is thalassaemia diagnosed?

Thalassaemia is diagnosed by blood tests. A full blood examination can be performed to check the levels of different components of blood. Haemoglobin electrophoresis is a test that measures the amounts of different forms of haemoglobin in blood. DNA analysis …

Are there different types of thalassaemia?

Depending on the number and type of mutated genes or deleted genes, varying types of thalassaemia are caused. Either alpha globin or beta globin - the components required to make haemoglobin - can be affected. There are multiple forms of each …

How is thalassaemia treated?

The treatment of thalassaemia depends on the type and severity of the condition. No treatment is required for carriers of alpha thalassaemia or beta thalassaemia minor. Haemoglobin H disease and beta thalassaemia major are treated with regular blood …

Can thalassaemia be cured?

Dealing with thalassaemia can often be difficult. If you are a carrier, no treatment is required, but there is a risk of having a child with thalassaemia if your partner is also a carrier. If you have a more severe form of thalassaemia, regular blood transfusions …

Is thalassaemia contagious?

Thalassaemia is not a contagious condition.

Can thalassaemia be prevented?

Thalassaemia is a condition that people are born with. If you are planning on having a baby, screening is possible to identify if you or your partner are carriers of thalassaemia. This is particularly important if there is a family history of the condition. …

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 18 Sep 2014
Last reviewed: 18 May 2018
Rating: 4.1 out of 5
Votes: 388 (Click smiley face below to rate)
Category: Cystic fibrosis

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