Patient education: Beta thalassemia (The Basics)

What is thalassemia? — Thalassemia is a condition that affects the red blood cells. Red blood cells are made inside your bones, in a part called the bone marrow. Red blood cells carry oxygen to all parts of the body using a protein called "hemoglobin." When there is too little hemoglobin in the blood, this is called "anemia."

In thalassemia, 1 or more of the genes that make hemoglobin do not work correctly. As a result, the body does not make enough hemoglobin. There are 2 kinds of thalassemia. They are called "alpha" and "beta" thalassemia, depending on which genes are involved. For each type, the condition can be more or less severe.

This article is about beta thalassemia.

What are the different types of beta thalassemia? — Depending on which genes are involved, and how severely they are affected, a person can have:

●Transfusion-dependent beta thalassemia – This is when anemia is severe enough to require blood transfusions beginning in childhood. This happens when a person inherits an abnormal gene from both of their parents, and both genes are severely affected.

●Non-transfusion-dependent beta thalassemia – This is a less severe form of the condition. People with this type have anemia and might need blood transfusions in certain cases, but not all the time. This can happen if a person inherits an abnormal gene from both parents but both genes are only mildly affected. It can also happen if a person inherits the gene from only 1 parent but the gene is severely affected.

●Beta thalassemia trait – People with beta thalassemia trait generally don't have symptoms. They might not even know they have it. This happens when a person inherits an abnormal gene from only 1 parent, and the gene is only mildly affected.

A person with any form of beta thalassemia can pass the abnormal gene to their children. The genes both parents pass on will determine the type of thalassemia in the child.

What are the symptoms of transfusion-dependent beta thalassemia? — In transfusion-dependent beta thalassemia, symptoms usually start after a baby is a few months old. Symptoms can include:

●Pale skin

●Acting cranky or upset

●Not growing as much as expected

●Swelling of the belly

●The skin or white part of the eyes turning yellow

●The bones of the face or skull being wider than normal

Some symptoms happen because parts of the body that don't normally make red blood cells start trying to make them. This is why some people notice swelling or abnormal growth of the belly or bones.

The other thing that can happen over time is too much iron building up in the body. This happens because having too little hemoglobin causes the body to take in more iron, even though it doesn't need to.

Is there a test for thalassemia? — Yes. A blood test can show if someone has thalassemia, and what type they have. Sometimes several blood tests are needed, to better understand the type of thalassemia and how the genes are affected.

How is transfusion-dependent beta thalassemia treated? — People with transfusion-dependent beta thalassemia can be treated with:

●Blood transfusions – A blood transfusion is when a person gets blood that was given (donated) by another person.

Although blood transfusions help treat thalassemia, they can also cause problems. That's because blood has iron in it. Iron from blood transfusions is especially a problem in beta thalassemia because the body is already absorbing too much iron.

●Medicine – A medicine called luspatercept (brand name: Reblozyl) can help some people need fewer blood transfusions. This medicine is given as a shot under the skin every 3 weeks. It is only used in older teens or adults. Your doctor can talk to you about whether it might help you. Doctors are also trying to find other treatments.

You might need other treatments, too. For example:

●People who have too much iron in their body need to get rid of the extra iron so it does not damage their organs. Treatment to get rid of this extra iron is called "iron chelation." Doctors can use different medicines for iron chelation.

●Some people with beta thalassemia will need surgery to remove their spleen (figure 1).

The only cure for thalassemia is a treatment called a "bone marrow transplant." This is also known as a "stem cell transplant." It involves getting bone marrow cells from another person. Usually the other person, or "donor," is a sibling who has similar genes but does not have transfusion-dependent thalassemia. (If they have a milder form of thalassemia, they can still be a donor.) Bone marrow transplant is only done for people who have a severe form of thalassemia, since it can cause many side effects, including death.

Doctors are also trying to find other treatments that can cure thalassemia. A type of bone marrow transplant that uses your own bone marrow cells has been used in Europe. The cells are treated in a lab so they have a normal gene instead of the abnormal hemoglobin gene. This is called "gene therapy." Very few people have had this treatment because it is still being studied. But it might become more common in the future.

What can people with thalassemia do to stay healthy? — People with all types of thalassemia should:

●See their doctor for regular follow-ups, and follow all instructions about tests and treatment.

●Avoid taking vitamins or supplements with iron in them.

●Take a vitamin called folic acid (folate), if the doctor or nurse recommends it.

What if I want to get pregnant? — People with thalassemia can have a healthy pregnancy. Your doctor might suggest making changes to your medical care before or during pregnancy.

If you are planning to try to get pregnant, talk to your doctor. They can make sure to test your partner for thalassemia and other disorders like sickle cell disease. Then they can help you understand the risk to your baby. Some people also find it helpful to talk to a genetic counselor.

If the risk to the baby is high, your doctor can talk to you about your options. For example, you might decide to try to get pregnant through in vitro fertilization ("IVF") using an egg from another person. Or you might use sperm donated by another person.

If you do get pregnant, you can choose to test your unborn baby for thalassemia.

More on this topic

Patient education: Splenectomy (The Basics)
Patient education: Allogeneic bone marrow transplant (The Basics)

Patient education: Blood donation and transfusion (Beyond the Basics)
Patient education: Hematopoietic cell transplantation (bone marrow transplantation) (Beyond the Basics)