Thalassaemia - Complications of thalassaemia

One of the most challenging aspects of living with and treating beta thalassaemia major (BTM) is the number of possible complications that can occur.

People with BTM and some people with moderate-to-severe beta thalassaemia intermedia (BTI) will need frequent check-ups so the risk of possible complications can be regularly assessed.

Some common complications of BTM are outlined below.

Enlarged spleen (hypersplenism)

One of the functions of the spleen (an organ found behind the stomach) is to recycle red blood cells. In people with BTM, the blood cells are often abnormal in shape, so the spleen has problems recycling them. The result is that an increasing amount of blood stays in the spleen, making it grow larger.

This can lead to the spleen becoming overactive and starting to destroy healthy blood cells received during blood transfusions, making effective treatment for BTM difficult. In these circumstances, the only treatment is to remove the spleen using a procedure known as a splenectomy.

The spleen also plays an important role in fighting infections. If your child has their spleen removed, it's therefore likely that vaccinations against potentially serious infections, such as meningitis and flu, will be recommended.

Encourage your child to be alert to possible symptoms of infections, such as fever or muscle pain, and report them as soon as possible. This is because infections could have a more serious effect on them than most people.

Hormone complications

The pituitary gland is one of the glands that regulates the hormone system. It's very sensitive to the effects of iron and can become damaged in some people with BTM, even if they stick to their chelation therapy.

Pituitary gland damage can lead to a number of hormonal conditions, including delayed puberty and restricted growth. Hormone replacement therapy (HRT) may be needed to treat these conditions.

Other complications that can appear after puberty include diabetes and an underactive thyroid gland or overactive thyroid gland.

Children with BTM will need their height and weight measured every six months to check they're developing normally. Teenagers who've started puberty will need their development assessed every year.

Heart complications

Iron overload can cause damage to the heart, leading to:

• an irregular or disturbed heartbeat (arrhythmia)
• impaired pumping of the heart (systolic dysfunction)
• a build-up of fluid in the tissue of the heart (pleural effusions) 
• heart failure 

If you have BTM, you'll need a check-up every six months to determine how well your heart is functioning. Every year, you'll also need a full examination carried out by a cardiologist (heart specialist) using an electrocardiogram (ECG) test to measure the electricity of your heart.

If damage to your heart is detected, it can be stopped and possibly reversed using more extensive chelation therapy. Medication such as angiotensin-converting enzyme (ACE) inhibitors can also be used to improve the functioning of your heart.

Liver complications

Iron overload can also cause liver damage, resulting in:

• hepatitis (swelling of the liver)
• an enlarged liver (fibrosis)
• cirrhosis (a progressive condition where the liver is increasingly damaged by scarring)

Chelation therapy can prevent further liver damage and antiviral medicines can be used to prevent further liver infection. Liver tests are recommended every three months to monitor the condition of the liver.

Bone complications

If your body isn't receiving enough healthy red blood cells, it will try to compensate by expanding the bone marrow, which in turn will expand the bones. This can lead to skeletal deformities, bone and joint pain, and osteoporosis (where the bones become thin and brittle.)

Low bone density is common, even in people who've been receiving regular blood transfusions. Those with low bone density are at an increased risk of fracturing (breaking) their bones.

People with BTM are encouraged to eat foods that are rich in calcium and vitamin D, both of which help strengthen the bones. Foods high in calcium include:

• beans
• tofu
• sardines
• salmon
• broccoli
• oranges
• oats
• dairy products, such as milk and cheese

Foods high in vitamin D include:

• milk
• orange juice
• eggs
• fish 
• liver

You may also be advised to take vitamin D and calcium supplements.

Regular exercise can also help strengthen bones. Adults should do at least 150 minutes (2 hours and 30 minutes) of moderate-intensity aerobic activity, such as cycling or fast walking, every week.

Two types of activity that are particularly important in improving bone density and helping prevent osteoporosis are weight-bearing exercises, such as running and aerobics, and resistance exercises, such as weight training and press-ups.

Osteoporosis can be treated using medicines called bisphosphonates, which help maintain bone density and reduce the chances of fracture. However, bisphosphonates aren't recommended for children and teenagers because they can interfere with normal bone development.