Thalassemia

Thalassemia

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 of the organs in the body using a protein called “hemoglobin.”

In thalassemia, the body does not make enough healthy hemoglobin. When a person’s hemoglobin is too low, it is called “anemia.”

Thalassemia is a life-long condition that people are born with. It is caused by an abnormal hemoglobin gene. There are many different types of thalassemia, depending on which hemoglobin gene is affected and how severe the anemia is. Beta thalassemia is 1 form. It includes:

• Transfusion-dependent beta thalassemia – This is when anemia is severe enough to require blood transfusions beginning in childhood.
• Non-transfusion-dependent beta thalassemia – This is a less severe form of the condition. People with this type have anemia but do not need blood transfusions as regularly.
• Beta thalassemia trait – This is when a person gets an abnormal gene from 1 parent, but not the other. People with this trait are called “carriers.” This is because they could pass the abnormal gene on to their children, too. Carriers often have no symptoms of the disorder, or only mild symptoms.

This article is mostly about transfusion-dependent beta thalassemia.

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 of the 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 certain organs or bones.

Is there a test for thalassemia?

Yes. A blood test can show if someone has thalassemia, and what type they have. Some people also get a test to check their genes.

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. When people get a lot of blood transfusions, their body gets too much iron. Too much iron can damage the heart, liver, and other organs. Transfusion-dependent beta thalassemia also causes the body to absorb extra iron from food. Because of this, it’s possible to have too much iron even if you do not get transfusions or only get transfusions once in a while.
• 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 .

The only cure for thalassemia is a treatment called a “bone marrow transplant.” This is also called a “stem cell transplant.” This 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 is 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 tested. 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.