Thalassaemia

Thalassaemiacan cause a wide range of problems, although treatment can help keep many ofthem 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 won't have any symptoms.

Some of the main problems associated with thalassaemia are outlined below, but not everyone with the condition will experience all of these.

Anaemia

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

In anaemiathere are low levels ofhaemoglobin (a substance that transports oxygen) in the blood.

It typically causes:

• tiredness (fatigue) and a general lack of energy
• Shortness of breath
• noticeably pounding, fluttering orirregularheartbeats( palpitations )
• pale skin
• yellowing of the skin and eyes ( jaundice )

Frequent blood transfusions willusually be needed for life to stop anaemia becoming severe. It's usually a side effect of repeated blood transfusions,

Too much iron in the body can cause:

• heart problems includingproblems affecting the heart muscle ( cardiomyopathy ), an irregular heartbeat and heart failure
• swelling and scarring of the liver ( cirrhosis )
• delayed puberty
• low levels of oestrogen (female hormone) or testosterone (male hormone)
• diabetes
• problems with the thyroid gland ( hypothyroidism ) and parathyroid glands ( hypoparathyroidism )

Lifelong treatment with medication 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, including:

• delayed growth during childhood
• gallstones (small stones in the gallbladder), whichcan cause inflammation of the gallbladder ( cholecystitis ), tummy (abdominal) pain and jaundice
• unusual bone growth, such as an enlarged forehead or cheeks
• weak, fragile bones( osteoporosis )
• reduced fertility some people with thalassaemiamayneed fertility treatment to helpthem have children