Thalassemia

What is thalassemia?

Thalassemia is a blood condition that causes the body to make fewer healthy red blood cells and less hemoglobin than normal. Hemoglobin is a protein in red blood cells that carries oxygen to the rest of your body. Thalassemia 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.

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

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

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, looks and works. If someone in your family has or had thalassemia, you can say you have a family history of thalassemia.

Sometimes the instructions in genes change. This is called a gene change or a mutation. A gene change can cause a gene to not work correctly. It also can cause birth defects or other health condition. Parents can pass gene the gene change for thalassemia to their children.

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 you can pass thalassemia to your baby?

If you have thalassemia or have a family history of thalassemia, you may want to have carrier screening before or during pregnancy. Carrier screening checks your blood or saliva to see if you’re a carrier of certain genetic conditions, like thalassemia. If you’re a carrier, you don’t have the condition yourself, but you have a gene change for it that you can pass to your baby. Both you and your partner can have carrier screening.

If you and your partner are carriers of the same condition, the risk that your baby has the condition increases. Getting tested before pregnancy can help you and your partner find out your baby’s risk and make decisions about getting pregnant. Carrier screening is your choice. You don’t have to have it if you don’t want it, even if your provider recommends it.

All women who are thinking about getting pregnant can get screened for thalassemia.

How is thalassemia diagnosed in your baby?

If your baby is at risk for thalassemia, you can have prenatal tests during pregancy to see if he has the condition. Prenatal tests are tests you get during pregnancy to see how you and your baby are doing. Talk to your health care provider about 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 13 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 signs or symptoms. Others may have signs and symptoms of thalassemia or anemia early in childhood. Signs and symptoms of thalassemia include:

• Feeling tired, weak or out of breath
• Pale or yellow skin
• Deformed bones in the face
• Slow growth
• Dark urine

If your baby has signs or symptoms of thalassemia after birth, his health care provider can test his blood 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. There are two main types of thalassemia:

1. Alpha thalassemia. This is caused when there’s a change in the genes that make a protein called alpha globin. Four genes help the body make alpha globin. Your baby gets two of these genes from each parent.
2. Beta thalassemia. This is caused when there’s a change in the genes that make a protein called beta globin. Two genes that help the body make beta globin. Your baby gets one from each of parent.

There are four kinds of alpha thalassemia:

1. 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.
2. Alpha thalassemia minor (also called alpha thalassemia trait). This condition is caused by two missing genes or gene changes. Your child may not have signs or symptoms, or she may have mild anemia, which can make her feel tired.
3. Hemoglobin H disease. This is caused by three missing genes or gene changes. It can cause your baby to have anemia and develop more serious complications.
4. 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. Stillbirth is when a baby dies in the womb after 20 weeks of pregnancy.

There are three kinds of beta thalassemia:

1. Beta thalassemia minor (also called beta thalassemia trait). This condition is caused by one gene change. Most people with this form have no signs or symptoms, or they may have mild anemia. They can pass the gene change on to their children.
2. Beta thalassemia intermedia. This condition is caused by two gene changes. It generally causes mild anemia.
3. 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 another genetic condition called sickle cell disease (also called SCD). This condition is called sickle beta thalassemia or S beta thalassemia. SCD is a blood condition that causes red blood cells to be shaped like a "C." 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.

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 medicine is called iron chelation therapy. Your child may get the medicine in a pill (Deferasirox, brand name Exjade®, or Deferiprone, brand name Ferriprox®) or medicine (Desferoxamine, brand name  Desferal®) by IV (through a needle into a vein).
• 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. Your child may need to 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 and are used to treat some forms of cancer and anemia. They’re found in bone marrow and umbilical cord blood. Bone marrow is the soft, sponge-like fatty tissue inside bones that makes blood cells. 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.

What health conditions can thalassemia cause?

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

• Bone problems. Thalassemia can cause bone marrow to expand (get bigger). When bone marrow expands, the bones become wider. They may become fragile and break more easily.
• Heart problems. Serious forms of thalassemia can cause heart problems, including heart failure.
• Infection. People with thalassemia are more likely than others to get infections, especially if their spleen has been removed. Your spleen is an organ that sits above your stomach and under your ribs on your left side. It helps your body fight infection and get rid of old, damaged cells.
• Large spleen. 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.
• 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.
• Too much iron in the blood. This can cause problems with your child’s heart, liver and other organs.

More information

• babysfirsttest.org 
• Centers for Disease Control and Prevention (CDC)

 Last reviewed: August, 2017