Thalassemia

Thalassemia

What is thalassemia? — Thalassemia is a condition that affects the red blood cells. The red blood cells are the part of the blood that carries oxygen. Normally, red blood cells carry oxygen to all of the organs in the body.

In thalassemia, the body doesn’t make enough red blood cells. When a person has too few red blood cells, it’s called “anemia.”

Thalassemia is a life-long condition that people are born with. It is caused by an abnormal gene. If people get this abnormal gene from both their mother and father, it’s called “thalassemia major.” If people get this abnormal gene from only 1 parent, it’s called “thalassemia trait.” Thalassemia trait doesn’t usually cause any of the symptoms of thalassemia major.

There are many different types of thalassemia. This article discusses a serious form called “beta thalassemia major.”

What are the symptoms of 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

Is there a test for thalassemia? — Yes. A blood test can show if someone has thalassemia.

How is thalassemia treated? — People with thalassemia and severe anemia are 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 the donated 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 and liver.

People getting blood transfusions for their thalassemia need treatment to get rid of the extra iron that builds up in their bodies. Treatment to get rid of this extra iron is called “iron chelation.” Doctors can use different medicines for iron chelation.

Thalassemia can sometimes be cured with a procedure called a “bone marrow transplant.” This procedure involves replacing the cells in the bone marrow (the inside part of bones) with healthy cells. These healthy cells come from another person (the donor). But not everyone with thalassemia can have this procedure. That’s because it can be done only if a person and his or her donor meet certain conditions.

Some people with thalassemia will need surgery to remove an organ called the spleen. That’s because the spleen removes red blood cells from the blood, which can make anemia worse.

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

  • See their doctor for regular follow-ups, and follow his or her instructions about tests and treatment.
  • Avoid taking vitamins with iron in them.
  • Take a vitamin called FOLIC ACID(folate), if the doctor or nurse recommends it.

What if I have a child with thalassemia and want to get pregnant? — If you have a child with thalassemia, it’s possible that your future children will have thalassemia, too. Talk with your doctor to find out how likely it is that your future children will have the disease.

If you do get pregnant, you can choose to test your unborn baby for thalassemia. This can be done in different ways.