Thalassemia

Thalassemia (thal-uh-SEE-me-uh) is a blood disorder that causes problems with how your body makes red blood cells. With this condition, you inherit one or more faulty genes from your biological parent/s. The genes prevent your body from making normal hemoglobin. Hemoglobin is the protein that carries oxygen inside red blood cells.

With thalassemia, your body produces fewer healthy hemoglobin proteins. Without the proteins, the lifespan of your red blood cells is shorter. This leaves you with too few healthy ones (anemia). Anemia symptoms can range from mild to severe. It varies based on the type of thalassemia you have.

Types of thalassemia

There are two types of thalassemia — alpha thalassemia and beta thalassemia. They’re named after the protein chains that make up hemoglobin: alpha and beta.

Alpha thalassemia

Alpha chains consist of four genes. When one or more genes are faulty, you develop alpha thalassemia. Your symptoms depend on how many defective genes you inherit.

• One faulty or missing alpha gene: You won’t have symptoms. This is also known as alpha thalassemia minima.
• Two faulty or missing alpha genes: If you have symptoms, they’ll likely be mild. This type is known as alpha thalassemia minor.
• Three faulty or missing alpha genes: You’ll have moderate to severe symptoms. Another name for this type is hemoglobin H disease.
• Four faulty or missing alpha genes: This type is often fatal at birth. Surviving this condition likely means you’ll need lifelong blood transfusions. It’s also known as hydrops fetalis with hemoglobin Barts.

​Beta thalassemia

Beta thalassemia chains consist of two genes. Anemia symptoms and severity depend on how many genes are defective. The defect’s location on the beta chain matters, too.

• One faulty or missing beta gene: You’ll have mild or no symptoms. Other names for this kind are beta thalassemia minor and beta thalassemia trait.
• Two faulty or missing beta genes: You’ll have moderate to severe symptoms. Experts group these thalassemias based on whether you’ll need regular blood transfusions.

If you need transfusions, you have transfusion-dependent thalassemia. If you don’t, you have non-transfusion-dependent thalassemia. The type you have may change during your lifetime.

Symptoms of thalassemia

Your experience will depend on the type of thalassemia you have and how severe it is.

Asymptomatic (no symptoms)

You likely won’t have symptoms if you’re missing one alpha gene. You may not have symptoms if you’re missing two alpha genes or one beta gene. Or you may have mild anemia symptoms, like fatigue.

Mild to moderate symptoms

Non-transfusion-dependent thalassemia may cause mild anemia symptoms. It may also cause signs and symptoms of moderate disease, like:

• An enlarged spleen
• Delayed puberty
• Growth problems
• Weak bones

Severe symptoms

Missing three alpha genes (hemoglobin H disease) often causes anemia symptoms at birth. It usually leads to severe lifelong anemia. Transfusion-dependent thalassemia often leads to severe anemia symptoms that show up by age 2.

Symptoms of severe anemia include those that happen with mild to moderate disease. Other symptoms may include:

• Poor appetite
• Pale or yellowish skin, yellowish mucous membranes or yellow in the whites of your eyes (jaundice)
• Pee that’s dark or tea-colored
• Irregular bone structure in your face

Thalassemia causes

Thalassemia is a genetic condition. If you have this disorder, it means you inherited one or more abnormal genes from a biological parent. These genes contain the instructions your body needs to make alpha or beta chains. Together, these chains make hemoglobin, the key protein red blood cells need to work.

• Alpha chains consist of four genes. You get two from each parent.
• Beta chains consist of two genes. You get one from each parent.

If any of these genes are faulty or missing, you have thalassemia.

Risk factors

Thalassemia is more common in people with ancestral links to parts of the world with malaria. These places include Africa, Southern Europe and West, South and East Asia. This is because the genes that cause thalassemia arose in humans to help protect against malaria.

Complications of this condition

Your body may get too much iron. This is called iron overload. Too much iron can build up from frequent blood transfusions or the disease itself. Iron overload can damage your heart, liver and endocrine system. Problems with your endocrine system can have widespread impacts throughout your body.

Children with moderate to severe disease may have growth delays and bone problems.

How doctors diagnose this condition

Healthcare providers usually diagnose moderate and severe thalassemia in childhood. Symptoms often appear by the time a child is 2 years old.

Blood tests that help confirm the diagnosis include:

• A complete blood count (CBC): Allows providers to see if you have too many or too few blood cells
• Hemolysis tests: Find substances in your blood that mean your red blood cells are dying too soon
• Iron blood tests: Help providers rule out a lack of iron as what’s causing anemia
• Hemoglobin analysis: Allows providers to identify abnormal hemoglobin chains
• Genetic testing: Detects abnormal genes that cause thalassemia

How is it treated?

You may not need treatment if your symptoms are mild. Treatments for moderate to severe disease may include:

• Blood transfusions: You’ll receive regular transfusions for severe alpha thalassemia and transfusion-dependent thalassemia. You may need occasional transfusions (for instance, during times of infection) for hemoglobin H disease or non-transfusion-dependent thalassemia.
• Chelation therapy: Over time, blood transfusions can lead to too much iron in your blood. This can damage organs. If this happens, you can take a pill to remove the extra iron.
• Folic acid supplements: Folate helps your body make healthy red blood cells.
• Medicines for anemia: Luspatercept and mitapivat treat adults with some forms of thalassemia. Luspatercept may reduce the need for blood transfusions.
• Splenectomy: Spleen removal surgery may improve symptoms. It may reduce your need for blood transfusions.
• Stem cell transplant: This is the only possible cure for thalassemia. You’ll receive stem cells (immature blood cells) from a compatible donor, which mature into healthy blood cells. But this procedure comes with serious risks, so not everyone is a candidate.

Your care team will help manage complications related to thalassemia that may arise.

When should I see my healthcare provider?

See your provider according to your treatment plan. In addition to treatment, you’ll need frequent complete blood counts and iron blood tests. Your provider may recommend yearly tests to check your heart and liver function. You’ll also need a yearly test for iron overload in your liver.

What is the life expectancy of someone with thalassemia?

You should expect a normal life expectancy if you have mild thalassemia. Even if your condition is moderate or severe, you have a good chance of long-term survival. But it’s important that you follow your treatment program.

Heart disease from iron overload is the leading cause of death. This is why keeping up with iron chelation therapy is extremely important.

Can this be prevented?

You can’t change the genes you’re born with. But you can take steps to prevent passing on the gene to a child.

If you think you or your partner carries genes for thalassemia, speak to a genetic counselor. They can perform genetic tests and give you guidance on family planning.