Thalassemia is a blood disorder that affects the way the body makes hemoglobin. Hemoglobin is the part of red blood cells that carries oxygen to the rest of the body. 

A person with thalassemia has fewer healthy red blood cells than normal. This can lead to anemia, a condition that happens when you don’t have enough healthy red blood cells or your red blood cells are too small. 

Both boys and girls can have thalassemia. It’s most common in people who are Italian, Greek, Middle Eastern, Asian or African. 

Many people with thalassemia lead healthy lives. But for some people, thalassemia may cause serious health conditions that need treatment. In severe cases, it may cause death. About 100,000 babies worldwide are born with severe thalassemia. 

What causes thalassemia?

Thalassemia is inherited. This means it’s passed from parent to child through genes. A gene is part of the body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent. If you or someone in your family has or had thalassemia, it means you have a family history of thalassemia. 

Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. 

Thalassemia happens when the body has trouble making proteins called alpha globin and beta globin; these proteins make hemoglobin. In thalassemia, a gene that makes these proteins is missing or changed. Your baby has to inherit a gene change for thalassemia to have the condition. 

If you have thalassemia or a family history of thalassemia, talk to a genetic counselor. This is a person who is trained to help you understand about how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health.

How do you know if your baby has thalassemia?

If you have thalassemia or have a family history of thalassemia, you may want to have prenatal tests before your baby is born to see if he has the condition. Talk to your health care provider about having these tests:

  • Chorionic villus sampling (also called CVS). This test checks tissue from the placenta to see if your baby has a genetic condition. You can get CVS at 10 to 12 weeks of pregnancy.
  • Amniocentesis (also called amnio). This test takes some amniotic fluid from around your baby in the uterus. The test checks for birth defects and genetic conditions in your baby. You can get this test at 15 to 20 weeks of pregnancy.

Some people with thalassemia don’t have any symptoms. Others may have signs and symptoms of thalassemia or anemia early in childhood. Signs and symptoms of thalassemia include:

  • Tiredness, weakness or being short of breath
  • Pale or yellow skin
  • Deformed bones in the face
  • Slow growth
  • Dark urine

If your baby has signs and symptoms of thalassemia after birth, your baby’s health care provider can give your baby a blood test to check for the condition. The blood test checks your baby’s red blood cells for size, color and shape. These things can help your provider know what kind of thalassemia your baby may have.   

What health conditions can thalassemia cause?

When thalassemia is severe, it can lead to serious health complications, including: 

  • Too much iron in the blood. This can cause problems with your child’s heart, liver and other organs. 
  • Bone problems. Thalassemia can cause bone marrow to expand (get bigger). Bone marrow is the sponge-like material inside bones that makes blood cells. When bone marrow expands, the bones become wider. They may become fragile and break more easily.
  • A large spleen. The spleen gets rid of damaged blood cells and helps the body fight infection. If your child has thalassemia, the spleen works harder to do its job. This causes the spleen to grow bigger and can make anemia worse. The spleen may need to be removed if it grows too big.
  • Infection. People with thalassemia are more likely than others to get infections, especially if their spleen has been removed.
  • Slow growth. Children with anemia may grow slowly and have late puberty. Puberty is the time in life (usually between age 8 and 15) when a person’s body changes from being a child to an adult. 
  • Heart problems. Serious forms of thalassemia can cause heart problems, including heart failure.

How is thalassemia treated? 

Treatment for thalassemia depends on how serious the condition is. If your child has a mild form of thalassemia or mild anemia, she may not need treatment. If her condition is more serious, she may need medical treatment, including: 

  • Blood transfusions. This is when your child has new blood put into her body. Blood transfusions give people with thalassemia healthy red blood cells. People with serious forms of thalassemia may need blood transfusions as often as every 2 to 4 weeks.
  • Iron chelation therapy. Both thalassemia and regular blood transfusions can cause too much iron to build up in the blood. Children and adults who have regular blood transfusions need medicine to help them get rid of the extra iron. This is called iron chelation therapy. Your child may get this medicine in a pill (Deferasirox, also called Exjade®, or Deferiprone, also called Ferriprox®) or through a needle placed under the skin (Desferoxamine, also called Desferal®). 
  • Folic acid supplements. A supplement is a product you take to make up for certain nutrients that you don’t get enough of in the foods you eat. Some people with thalassemia take folic acid supplements to help treat anemia. Folic acid is a B vitamin that every cell in the body needs for healthy growth and development.
  • Bone marrow transplant. This is a kind of stem cell transplant. Stem cells can grow into specific kinds of cells in the body. They may be used to treat some diseases, like some forms of cancer and anemia. They’re found in bone marrow and umbilical cord blood. In a bone marrow transplant, your child gets new stem cells that may grow to make healthy, new cells. It’s a risky procedure and only used in the most severe cases. It works best when the bone marrow donor is an exact genetic match to your child, like an identical twin.

Are there different kinds of thalassemia?

Yes. There are two main types of thalassemia, and each has different forms. The two main types are:

  1. Alpha thalassemia. This is when the body has trouble making alpha globin. Four genes help the body make alpha globin. Your child gets two of these genes from each parent. The form of alpha thalassemia depends on which gene is missing or has a gene change. 
  2. Beta thalassemia. This is when the body has trouble making beta globin. There are two genes that help the body make beta globin. Your child gets one from each of parent. The form of beta thalassemia depends on the type of gene change. 

The forms of alpha thalassemia are:

  • Carrier. This is caused by one missing gene or gene change for alpha thalassemia. When this happens, your baby is a carrier. Carriers usually don’t have symptoms, but they can pass the condition to their children. 
  • Alpha thalassemia minor, also called alpha thalassemia trait. This condition is caused by two missing genes or gene changes. Your child may not have symptoms or may have mild anemia, which can make him feel tired. 
  • Hemoglobin H disease. This is caused by three missing genes or gene changes. Your child may have anemia or develop more serious complications. 
  • Alpha thalassemia major, also called hydrops fetalis. This is caused by four missing genes or gene changes. It’s the most serious form of alpha thalassemia. It can lead to stillbirth or the death of a baby shortly after birth. 

The forms of beta thalassemia are:

  • Beta thalassemia minor, also called beta thalassemia trait. This condition is caused by one gene change. Most people with this form have no symptoms, or they may have mild anemia. They can pass the gene change on to their children. 
  • Beta thalassemia intermedia. This condition is caused by two gene changes. It generally causes mild anemia.
  • Beta thalassemia major, also called Cooley’s anemia. This is the most serious form of beta thalassemia. It’s caused by two gene changes. Most children with thalassemia major seem healthy at birth but develop severe anemia during the first few years of life. Without treatment, they can develop liver, bone and heart problems. 

Sometimes, a gene change for beta thalassemia can happen along with a gene change for sickle cell anemia. This condition is called sickle beta thalassemia or S beta thalassemia. Your baby gets checked for S beta thalassemia in newborn screening. Newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. 

Last reviewed: November, 2014