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 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, when it starts to destroy the healthy blood cells that are 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 part in fighting infections. Therefore, if your child has their spleen removed, it is likely that vaccinations against potentially serious infections, such as meningitis and flu, will be recommended.
Encourage your child to be alert to the possible symptoms of infections, such as muscle pain or fever, and report them as soon as possible. This is because infections could have a more serious effect on them than most people.
Hormone complications
One of the glands that regulates the hormone system (the pituitary gland) is very sensitive to the effects of iron. It can, therefore, become damaged in some people with BTM, even if they stick to their chelation therapy.
Damage to the pituitary gland can result in a number of hormonal conditions, including delayed puberty and restricted growth. Hormone replacement therapy may be needed to correct these conditions.
Other complications that can appear after puberty include diabetes and underactive or overactive thyroid gland.
Children with BTM will need to have their height and weight checked every six months to see if they are developing normally. Teenagers who have begun puberty will need to have 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)
- build-up of fluid in the tissue of the heart (pleural effusions)
- heart failure
If you have BTM, you will need to have a check-up every six months to determine how well your heart is functioning. Every year, you will also need to have 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 damage to the liver, resulting in:
- hepatitis (swelling of the liver)
- an enlarged liver (fibrosis)
- cirrhosis (a progressive disease where the liver is increasingly damaged by scarring)
Chelation therapy can prevent further damage to the liver 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 is not 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 (a condition where the bones become thin and brittle.)
Low bone density is common, even in people who have been receiving regular blood transfusions. Those with low bone density are at increased risk of fracturing (breaking) their bones.
People with BTM are encouraged to eat a diet that is high in calcium and vitamin D, both of which help strengthen the bones. Foods that are high in calcium include:
- beans
- tofu
- sardines
- salmon
- broccoli
- oranges
- oats
- dairy products, such as milk and cheese
Foods that are 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. People with BMT should try to do a minimum of 30 minutes of exercise, at least three to four times a 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 are not recommended for children and teenagers because they can interfere with normal bone development.
