Patient education: Beta thalassemia (The Basics)

What is thalassemia? — 

This is a condition that affects red blood cells. Red blood cells are made inside bones, in a part called the bone marrow. They 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."

Hemoglobin has 2 parts, called "alpha globin" and "beta globin." In thalassemia, 1 or more of the genes that make alpha globin or beta globin do not make enough of it. In alpha thalassemia, there is not enough alpha globin. In beta thalassemia, there is not enough beta globin.

This article is about beta thalassemia.

What are the different types of beta thalassemia? — 

The type depends on how much beta globin is made. A person can have:

●Transfusion-dependent beta thalassemia – This is when there is no (or almost no) beta globin. People with this type have severe anemia, and they have other changes as their body tries to make more hemoglobin. They need blood transfusions, beginning in childhood. This type used to be called "beta thalassemia major."

●Non-transfusion-dependent beta thalassemia – This is less severe. People with this type have some beta globin, and they have anemia. They might need blood transfusions in certain cases. This type used to be called "beta thalassemia intermedia."

●Beta thalassemia trait – This is when there is almost a normal amount of beta globin. People with beta thalassemia trait usually do not have symptoms.

People get 1 beta globin gene from each of their parents. If the gene from both parents has a problem making beta globin, thalassemia will be more severe. If the gene from only 1 parent has a problem making beta globin, thalassemia will be less severe.

What are the symptoms of 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.

Is there a test for thalassemia? — 

Yes. A blood test can show if someone has thalassemia, and what type. Sometimes, several blood tests are needed to better understand the type and how the genes are affected.

How is transfusion-dependent beta thalassemia treated? — 

Treatment can include:

●Blood transfusions – This is when a person gets blood that was given (donated) by another person. This treats anemia. It also prevents the body from trying to make blood cells in other places.

The main side effect of blood transfusions is that they cause the body to have too much iron. That's because blood has iron in it. People who get regular transfusions need to take another medicine to remove iron from the body. These medicines are called "iron chelators."

Transfusions can also have other side effects, like fever or allergic reactions.

●Luspatercept (brand name: Reblozyl) – This medicine can help reduce how many blood transfusions a person needs. It is given as a shot under the skin every 3 weeks. It is only used in older teens or adults. It has not yet been tested in children. Your doctor can talk to you about whether it might help you.

●Splenectomy – This is surgery to remove the spleen (figure 1). It is usually done if anemia gets worse or if the spleen is very large.

●Stem cell transplant – This treatment involves getting bone marrow from another person, called a "bone marrow transplant." Bone marrow is where blood cells are made. Blood stem cells are the cells that can make all the other blood cells.

Usually, the person who donates blood stem cells (called the "donor") is a sibling who does not have transfusion-dependent thalassemia. If they have a milder type of thalassemia, they can still be a donor.

This is only done for people who have severe thalassemia. Since the treatment to remove bone marrow uses very strong chemotherapy medicines, there can be side effects from the donor's bone marrow. Some people do not survive after the transplant.

●Gene therapy – Doctors are trying to find other treatments for thalassemia. One example is "gene therapy." This involves treating bone marrow cells in the lab with a new gene so they make more beta globin. Then, the person has a stem cell transplant using their own treated bone marrow.

Very few people have tried gene therapy for thalassemia. 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 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 want to try to get pregnant, talk to your doctor. They can test your partner for thalassemia and other disorders like sickle cell disease. The results can help you understand the risk to your baby. Some people also 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 baby for thalassemia. Or you can test the fetus before you give birth.

More on this topic

Patient education: Blood transfusion (The Basics)
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)