Thalassemia

Thalassemia is a blood disorder that can cause anemia and other health problems. While there is no cure, there are treatments that can help manage the condition.

At Banner Health, we provide expert care for people with thalassemia, offering personalized treatment plans and ongoing support. If you or a loved one has thalassemia, we’re here to help you stay healthy and live well.

What is thalassemia?

Thalassemia is a genetic condition that is passed down from parents to children. It occurs when the body doesn’t make enough hemoglobin. 

Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. When your body doesn’t produce enough hemoglobin, red blood cells can’t carry enough oxygen to organs and tissues. Fewer red blood cells can cause anemia and other health problems, like iron overload.

What are thalassemia types?

When we talk about thalassemia, we can refer to either:

• The specific part of hemoglobin that is affected (alpha or beta); or
• The severity of the disorder, which may be described as trait, minor, intermediate or major.

If your body doesn't make enough alpha or beta hemoglobin, it can’t produce enough healthy red blood cells. This leads to the two main types of thalassemia: alpha thalassemia and beta thalassemia. Each hemoglobin needs two alpha chains and two beta chains linked together in a square to work properly.

Alpha thalassemia 

In alpha thalassemia, the body does not produce enough alpha hemoglobin. The severity depends on how many alpha genes are affected. The more genes affected, the more serious the condition is:

• Silent carrier: A person with one missing or altered alpha-globin gene may have no symptoms but can pass it to their children.
• Alpha thalassemia trait or minor: Two missing genes will cause mild anemia.
• Hemoglobin H disease: Three missing genes will lead to moderate to severe anemia, enlarged spleen and bone issues.
• Alpha thalassemia major (or hemoglobin Bart hydrops fetalis): Four missing genes causes severe anemia. It is often fatal before or shortly after birth.

Beta thalassemia

Beta thalassemia occurs when the body doesn’t make enough beta hemoglobin. Like alpha thalassemia, the severity depends on how many beta genes are affected:

• Beta thalassemia minor or trait: One altered gene results in mild anemia, causing mild or no symptoms. People with this condition are often carriers and may not know they have it. 
• Beta thalassemia intermedia: Two altered genes cause moderate anemia. People with this form may need occasional blood transfusions.
• Beta thalassemia major (Cooley’s anemia): Both genes are affected, causing severe anemia. This form requires regular blood transfusions and medical care. 

Thalassemia risk factors

The main risk factors for thalassemia include:

• Family history: Thalassemia is inherited, so having a parent or close relative with the condition increases your risk.
• Ethnic background: Thalassemia is more common in people of Mediterranean, Middle Eastern, South Asian and African descent.

Signs and symptoms of thalassemia

The symptoms of thalassemia depend on the type and severity of the disorder. Common symptoms include:

• Tiredness (fatigue)
• Weakness
• Shortness of breath
• Pale or yellow skin (jaundice)
• Slow growth in children
• Delayed puberty
• Enlarged spleen or liver
• Dark or tea-colored urine (pee)
• Bone deformity, particularly in the face

People with milder forms of thalassemia may not show symptoms or only have mild anemia. However, in severe cases, ongoing treatment is needed to manage symptoms. 

Complications of thalassemia

Thalassemia can lead to complications, especially if it is not managed well. Some potential issues include:

• Iron overload: Too much iron in your blood can cause damage to your heart and liver. It can also cause endocrine problems, like diabetes or an underactive thyroid (hypothyroidism).
• Infections: An enlarged spleen can increase your risk for infections.
• Bone problems: Bones can become thin and brittle, increasing the chances of bone deformities, fractures and osteoporosis.

How is thalassemia diagnosed?

Your health care provider can diagnose thalassemia using blood tests and genetic testing:

• Blood tests: A complete blood count (CBC) checks your red blood cells and hemoglobin levels. Another test, called hemoglobin electrophoresis, looks at the types of hemoglobin in your blood to find problems.
• Genetic tests: These tests identify changes in the genes that cause thalassemia, which helps confirm the diagnosis.

In some cases, prenatal testing can also be done before a baby is born. These tests include chorionic villus sampling and amniocentesis to determine if a baby has thalassemia and how severe the condition is. 

Treatment options

There is no cure for thalassemia. However, the disorder can be managed with treatment. The type of treatment you need will depend on the severity of your thalassemia.   

Regular blood transfusions

If you have severe thalassemia, you may need regular blood transfusions to replace missing red blood cells. While transfusions help manage anemia, they can lead to iron overload.

Iron chelation therapy

Iron chelation therapy is often needed because blood transfusions can cause iron overload. This treatment removes excess iron from the body through oral medication or injections. 

Bone marrow transplant

A bone marrow and stem cell transplant can offer a potential cure for some people with severe thalassemia. This procedure replaces damaged bone marrow with healthy marrow from a donor.

Bone marrow transplants are more effective in children and require a compatible donor, often a sibling. However, it’s a complex procedure with potential risks and benefits. Your health care provider will discuss these issues with you.

Gene therapy

This newer treatment aims to correct the genetic defect causing thalassemia. One type of gene therapy involves introducing healthy genes into the body to help produce normal red blood cells. Another type uses a treatment to change the type of hemoglobin the body produces to allow the body to make its own healthy red blood cells. Both of these treatments affect the bone marrow cells and require a specialty provider to help decide if the treatment is right for you. 

Additional thalassemia medicines, such as Reblozyl (luspatercept-aamt) and hydroxyurea, may help the body produce and maintain healthy red blood cells. 

Living with thalassemia

Thalassemia is an ongoing (chronic) condition. Living with it requires a commitment to managing the condition. Here are some important aspects of daily life:

• Regular checkups: You should see your health care provider regularly for monitoring. You may need a yearly test for iron overload in your liver and heart and liver function tests.
• Balanced diet: A healthy diet can support overall well-being. Eating a variety of foods rich in vitamins and minerals, such as fruits, vegetables, whole grains and lean proteins, can be beneficial. Avoid iron-rich foods.
• Vitamins: Folic acid supplements can help your body produce red blood cells.
• Lifestyle changes: Depending on the severity of thalassemia, you may need to adjust your lifestyle. This could include avoiding strenuous exercise or managing stress.
• Emotional support: Living with a chronic condition can be emotionally challenging. Seek support from family, friends or support groups. 

Living well with thalassemia is manageable. With proper medical care and support, you can lead a full life. 

How Banner Health Can Help

Banner Health provides a full range of services to support people with thalassemia. Whether your thalassemia is mild or severe, we are here to provide the care and support you need.

If you or a loved one has thalassemia, contact Banner Health to learn more about our services and how we can help.