This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Beta Thalassemia”. This article lists complications associated with beta thalassemia (BT) and how they can be treated.
There are a number of complications that you may develop if you have BT. Some of these are the result of the disease itself, particularly if you don’t have the treatment you need. Others are the result of a combination of the disease and its treatment.
Children with BT major (and some with BT intermedia) who don’t receive treatment may have bone deformities that develop slowly over time. The skull expands and heavy brows develop. Your doctor may call this ‘bossing’. The cheekbones get bigger, which alters the shape of the face, nose and eyes. It also affects the placement of the teeth.
‘Bossing’ does not mean that the bones become harder – in fact they are thinner and more fragile. Your doctor may call this osteopenia or osteoporosis. This increases the risk of fractures, mainly in the spine, ribs, pelvis and long bones.
Osteopenia means that your bones have started to become thinner and more fragile. Osteoporosis means you have more severe bone thinning.
Why Do Bone Deformities Occur?
Normally, blood cells are made inside the bones by a tissue called bone marrow. In BT there are fewer circulating red blood cells and less Hb than normal. To try to make up for this, the bone marrow becomes overactive and produces more and more red blood cells. But as these are abnormal, they die early and don’t help to correct the anemia.
As the bone marrow continues to try to correct the anemia, it expands and this causes the bones to become bigger. It is this that causes the typical bone changes of BT. The more severe the form of BT, the more noticeable these changes will be. Treatment is with red blood cell transfusions.
An Enlarged Spleen
Some people with BT major may also develop an enlarged liver (hepatomegaly) and spleen (splenomegaly), leading to abdominal swelling. This happens because the spleen removes faulty red blood cells and also because the liver and spleen become alternative sites for red blood cell production.
A very enlarged spleen can cause abdominal discomfort and make anemia worse. So, it may have to be removed. Splenomegaly is more common and severe if you have non-transfusion-dependent BT. If you are having transfusions you will be receiving healthy normal red blood cells from donors and your spleen won’t have to work so hard.
If you have BT trait, you may also have a slightly enlarged spleen, but not enough to cause symptoms.
Gallstones can develop because of high levels of bilirubin in the liver caused by the chronic hemolysis. Hemolysis is the destruction of red blood cells.
If you have gallstones, you may feel bloated and sick (nauseated) and have abdominal pain. You may need surgery to have your gallbladder and the stones removed.
There is an increased risk of blood clots (thrombosis) as you get older, particularly if you have non-transfusion-dependent BT. The risk is higher if you’ve had your spleen removed.
Sometimes in BT, if the bone marrow isn’t able to make enough blood cells, they can be made outside the bone marrow, in the liver and spleen. This can cause the liver and spleen to get bigger. But it can also cause small slow-growing lumps of tissue to develop, usually in the chest near the spine. These lumps (masses) are harmless but they can sometimes press on spinal nerves and cause problems. Although they are completely benign (not cancerous), doctors need to distinguish them from tumors on scans and X-rays and this can be difficult. Blood transfusions can prevent these from developing.
When red blood cells are made in tissues other than the bone marrow, this is called extramedullary erythropoiesis. Common sites of extramedullary erythropoiesis include organs such as the liver and spleen, as well as lymphatic tissue, especially all along the spine.
Untreated BT intermedia can lead to problems with wound healing. Even minor wounds on the legs, particularly the ankles, don’t heal and may get worse and become infected. These are treated with dressings to help them heal and antibiotics if infected.
Iron-Related Complications: Iron Overload
Normally, when ageing red blood cells are broken down in the body, the iron that’s released is recycled into new cells. When a person has regular blood transfusions, iron overload can also happen as donor red cells contain iron. Iron overload is when there is too much iron in your body. As the body can’t get rid of all the extra iron, it builds up and can cause damage.
Iron overload can also develop in people who don’t have regular transfusions (non-transfusion-dependent BT), but it develops more slowly. The buildup occurs because the overactive bone marrow sends signals to the gut to absorb much more iron from the diet. This happens because the body tries to correct the anemia by making more red blood cells and for this it needs iron.
Iron buildup can damage the liver, causing fibrosis. Fibrosis is scar tissue that replaces damaged liver tissue. If not controlled, fibrosis can develop into cirrhosis and liver failure.
Iron overload can also cause heart damage, leading to abnormal heart rhythms (arrhythmia) and eventually heart failure. Excess iron can also damage your bones and joints, increasing the risk of weakened bones (osteoporosis).
Hormone levels can be affected by iron overload too. Your thyroid hormone levels may be low, which can cause fatigue, weight gain and constipation.
You may be at a higher risk for diabetes. Iron affects the production of insulin in the pancreas, which controls blood sugar levels.
You may also have low levels of sex hormones. Puberty is often later than usual in children with BT. The low hormone levels may cause reduced fertility.
To help prevent all the problems caused by iron toxicity, your iron levels may need to be controlled with treatment called chelation therapy. Iron levels can be kept low and safe by the daily use of medicines called iron chelators.
There are no particular complications from carrying a baby with BT. But if you have BT, pregnancy can put an extra strain on your body and make your symptoms worse. You may also have difficulty becoming pregnant, as iron overload can affect fertility (because of the effect on hormone levels).
You will need extra tests to check your heart, liver and bone health. If you are on chelation therapy, you will have to stop for the first half of the pregnancy because the medicines could be toxic for the baby.
Your Hb levels will be closely monitored and you may need transfusions more often, particularly as the pregnancy progresses.
Treatment for Complications
Some people need surgery for complications of BT, such as an enlarged spleen or gallstones.
A very enlarged spleen can cause abdominal discomfort and make anemia worse, so it may have to be removed. In BT, removing the spleen improves anemia and reduces the need for such frequent blood transfusions in some people.
Because BT is now much better controlled with transfusions, fewer people develop a very enlarged spleen and so splenectomy (surgery to remove the spleen) isn’t done as often. However, people with non-transfusion dependent thalassemia may also need a splenectomy, as their thalassemia isn’t managed with transfusions.
Splenectomy is a major operation and will require a stay in hospital and you will need time to recover. You may have open surgery (one larger incision) or laparoscopic surgery (several small incisions). Laparoscopic surgery is sometimes called keyhole surgery or bandaid surgery. With keyhole surgery, your hospital stay is generally shorter and recovery from surgery is faster.
There can be other problems after you’ve had your spleen removed.
In BT, removing the spleen increases your risk of developing blood clots (thrombosis). This risk is lifelong and is the main reason why the benefits of surgery must be carefully weighed against the risks.
The spleen is part of your body’s defense against infection so you are more at risk without it. To give you added protection, you will need some vaccinations, ideally before your surgery. If your child has their spleen removed, your doctor may also want them to take antibiotics daily for a couple of years after surgery to prevent infection. Or you may have an antibiotic prescription at home, so you can start taking them quickly if needed.
Stones in your gallbladder can be very painful and make you feel very unwell.
The treatment is usually surgery to remove your gallbladder. You may have open surgery or keyhole surgery.
Keyhole surgery usually means a shorter stay in hospital and a quicker recovery as there is no large incision.
People with BT may develop blood clots. The risk is higher in certain circumstances, such as before planned surgery, during pregnancy or after having your spleen removed. Your doctor may suggest you take medicines to reduce the risk of your blood clotting. You will have to have these if you’ve had your spleen removed. These medicines are called anticoagulants and include low-dose aspirin and heparin-like medicines.
Information based on Fast Facts for Patients: Beta Thalassemia (Karger, 2023).