This is the seventh part of our series about the condition based on our patient booklet “Fast Facts for Patients: Alpha Thalassemia”. This article lists the symptoms and treatment of alpha thalassemia (AT).

How Will AT Affect Me or My Child?

Symptoms of AT vary depending on which type of AT you have. Some people have no symptoms while others have severe symptoms that need lifelong treatment.

Complications are health problems caused by the disease (AT) or by the treatment. Complications also vary from mild to severe.

Symptoms of alpha thalassemia

Silent carrier. As a silent carrier, you won’t have any symptoms of AT and will have no health problems related to AT.

AT trait. With AT trait, symptoms vary from none to mild anemia. This can cause fatigue, particularly after exercise, and pale skin and you may feel weak.

HbH AT. Symptoms and complications are more severe in people with HbH AT. They include anemia, enlarged liver and spleen, gallstones, abnormal bone development, blood clots and iron overload (see below).

AT major. Children and adults with AT major will need regular treatment to prevent severe anemia. They are also at risk of all the complications that can happen with HbH AT.

Anemia

People with more severe HbH AT and AT major will have more severe anemia, which causes increased fatigue, difficulty breathing, weakness and dizziness.

Anemia can sometimes get worse with age or when the body is under stress: for example, if you have an infection or during pregnancy.

Babies born with HbH AT may have anemia but don’t usually need regular treatment.

Children and adults with AT major will need regular treatment for anemia.

Treatment

The main treatment for anemia is blood transfusions. Blood transfusions provide healthy red blood cells.

How Often Will I Need Blood Transfusions?

How often people with HbH AT (three gene changes) need blood transfusions varies. It depends on how severe their anemia is and it also depends on their age. Some people with HbH AT need regular transfusions by the time they reach their teens or 20s.

People with AT major (four gene changes) will need regular transfusions throughout their lives. Transfusions can happen every couple of weeks.

You receive blood through a small plastic tube inserted into one of the blood vessels in your arm. The procedure usually happens in a hospital or a special clinic for blood diseases. Babies, children and adults can have transfusions. The procedure will take a few hours each time.

Doctors also sometimes prescribe folic acid tablets to help with anemia. Folic acid is a kind of vitamin which helps to produce red blood cells.

Enlarged Liver and Spleen

HbH AT and AT major can cause the liver and spleen to get bigger than normal, and your abdomen may feel uncomfortable. You may have pain too. It happens because the spleen has to work hard to get rid of the faulty red blood cells and the liver has to work hard to process the resulting waste products.

Treatment

If an enlarged spleen is causing discomfort and pain, you may need surgery to remove it. The removal of a spleen is called splenectomy. Blood transfusions can also help to shrink an enlarged spleen. People who have had a splenectomy have a higher risk of infections. Your hematologist and general surgeon will discuss the risks and benefits with you.

Gallstones

These can develop because of high levels of bilirubin (a waste product from the processing of red blood cells). Some people with gallstones have no symptoms, but others may feel bloated and sick (nauseated) and have abdomen pain.

Treatment

The treatment is usually laparoscopic surgery (sometimes called keyhole or bandaid surgery) to remove your gallbladder. Keyhole surgery usually means that you recover more quickly because there is no major incision.

Abnormal Bone Development

Normally, blood cells are made inside the bones by a tissue called bone marrow. In AT 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 may cause the bones to become bigger, particularly in the face, causing a ‘heavy’ forehead and overgrowth of the brows and jaw. Your doctor may call this bossing.

With untreated AT, limbs can also be shorter than usual because the long bones stop growing early. Bones may also become weakened and break more easily. Your doctor may call this osteoporosis or osteopenia.

Treatment

If you or your child have HbH AT or AT major, you will have regular health checks so that any abnormal bone development is found early. Regular blood transfusions and the treatment for iron overload usually helps prevent bone problems.

Blood Clots

People with AT have a slightly increased risk of blood clots. The risk is higher in people who have had their spleen removed and the risk increases with age. Blood clots are more common in women.

Treatment

Treatment for blood clots varies but may include aspirin or low-dose blood thinners. These are called anticoagulants.

Leg Ulcers

HbH AT can cause problems with wound healing. Even minor wounds on the legs, particularly the ankles, don’t heal and may become infected and need antibiotics.

Iron Overload

Iron overload is a common complication of AT major and HbH AT.

Normally, when aging 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 happen as donor blood also contains iron. Iron overload is when there is too much iron in your body. It can also develop in people with HbH AT who do not have regular transfusions but it happens 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.

Why Is Iron Overload a Problem?

Too much iron is toxic to the body as the body is not able to remove it. The excess iron increases over time and can damage your organs.

Iron buildup can damage the liver. The damaged liver tissue is replaced by fibrous tissue, also called scar tissue. This process is called fibrosis. A research study found that around 1 in 5 people (20%) with HbH AT have liver tissue that has been replaced with fibrous tissue (fibrosis). If fibrosis gets worse, it can develop into liver cirrhosis and liver failure.

Iron overload can cause heart damage, leading to abnormal heart rhythms (arrhythmia) and eventually heart failure.

Effects of iron overload

It can also damage your bones and joints. People with AT major and HbH AT are prone to weakened bones (osteoporosis). This is partly due to the thalassemia, but iron overload also contributes because iron can collect in the bones and cause damage.

Hormone levels can be affected by iron overload. Your thyroid hormone levels may be low, leading to fatigue, weight gain and constipation. You may also be more at risk of developing diabetes, because iron affects the production of insulin in the pancreas, which controls your blood sugar levels.

If you are receiving blood transfusions, you may have low levels of sex hormones. In children with AT, this can mean that puberty is later than usual. This is less common these days, because many children have well-managed anemia and iron levels after their AT diagnosis.

Treatment

To help prevent all the problems caused by iron toxicity, your iron levels may need to be controlled by a treatment called chelation therapy. There are three types of chelation therapy. You may have it through continuous intravenous infusion (directly into a vein), through your skin (subcutaneously) or by mouth (orally). Your doctor will discuss the choice of chelation therapy with you and any possible side effects.

Your doctor will monitor your iron level with blood tests. If it seems high, you may have an MRI (magnetic resonance imaging) scan to measure the iron concentration in your liver and/or your heart. This will show whether you need chelation therapy.

Important: If your doctor says you need chelation therapy, it is very important that you follow their instructions. Iron overload can be fatal.

Your Healthcare Team

AT is a complex health condition and needs specialist care. Your treatment should be managed by a specialist center for blood disorders and overseen by a consultant hematologist (a doctor that specializes in treating blood disorders and diseases).

Specialist centers will often have a thalassemia clinical nurse specialist, who you can contact if you have any questions when you’re at home.

 

Please check out the other posts of our series here:

 

Information based on Fast Facts for Patients: Alpha Thalassemia (Karger, 2023).

Related Posts

Platelets, a type of blood cell, are involved in the control of blood loss. In the review article “In vitro...
Immunohematology is the study of antigens on red blood cells and antibodies that are associated with blood transfusions. In the...
Primary immune thrombocytopenia is a type of autoimmune disorder. In the research article “The Role of Follicular Regulatory T Cells/Follicular...

Comments

Share your opinion with us and leave a comment below!