Symptoms

Thalassaemia can cause a wide range of health problems, although treatment can help keep many of them under control.

Children born with the main type of thalassaemia, beta thalassaemia major, usually develop symptoms a few months after birth.

Less severe types may not cause any noticeable problems until later in childhood, or even until adulthood.

If you're a carrier of thalassaemia, you'll usually be healthy and will not have any symptoms.

If you have thalassaemia, you may have some of the symptoms discussed on this page.

Anaemia

Almost everyone with thalassaemia major or other serious types will develop anaemia, which can be life threatening in severe cases.

In anaemia there are low levels of haemoglobin, a substance that transports oxygen, in the blood.

It typically causes:

• tiredness and a general lack of energy
• shortness of breath
• pounding, fluttering or irregular heartbeats (palpitations)
• pale skin
• yellowing of the skin and eyes (jaundice)

Frequent blood transfusions are usually needed for life to stop anaemia becoming severe.

Too much iron in the body

Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. It's usually a side effect of repeated blood transfusions.

Too much iron in the body can cause:

• heart problems – including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure
• swelling and scarring of the liver (cirrhosis)
• delayed puberty
• low levels of oestrogen (in women) or testosterone (in men)
• diabetes
• problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism)

Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. This is known as chelation therapy.

Other problems

Thalassaemia major or other severe types can also sometimes cause a number of other problems.

These include:

• delayed growth during childhood
• small stones in the gallbladder (gallstones), which can cause inflammation of the gallbladder (cholecystitis), stomach ache and jaundice
• unusual bone growth, such as an enlarged forehead or cheeks
• weak, fragile bones (osteoporosis)
• reduced fertility – some people with thalassaemia may need fertility treatment to help them have children