Thalassemia Disease and Trait

Nevada State Public Health Laboratory

Newborn Screening For Hemoglobinopathies

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 do not 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.

Frequently Asked Questions

Who is Affected by Thalassemia?

Boys and girls can have thalassemia. Alpha thalassemia is seen in all racial groups, but most commonly in people of Asian, Mediterranean, African American, and Native American decent. In African Americans, Alpha thalassemia usually is a one or two gene deletion. In people of Asian descent the two gene deletion typically occurs on the same chromosome, so there can be a risk of having a baby with Alpha thalassemia (Hydrops fetalis). African Americans are more likely to have the Trans type of alpha thalassemia trait; as a result, this ethnic group is less likely to be at risk for having children with Fetal Hydrops syndrome.

What are the Symptoms of Thalassemia?

Some people with thalassemia do not 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
What Causes Thalassemia?

Thalassemia is inherited meaning it is 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. Sometimes the instructions in genes change and referred to as a gene change or a mutation. A gene change can cause a gene not working correctly and can cause birth defects or other health condition. If you and your partner both have thalassemia trait, for each pregnancy, there is a:

  • 25 percent chance that the child will have thalassemia disease
  • 25 percent chance that the child will have normal hemoglobin levels
  • 50 percent chance that the child will have thalassemia trait
What are the Two Main Types of Thalassemia
Alpha Thalassemia

This is caused when there is 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. There are four kinds of alpha thalassemia:

  • Carrier. This is caused by one missing gene or gene change for alpha thalassemia. When this happens, your baby is a carrier. Carriers usually do not have symptoms, but they can pass the condition to their children.
  • Alpha Thalassemia Minor/Bart’s Hemoglobin (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.
  • Hemoglobin H Disease. This is caused by three missing genes or gene changes. It can cause your baby to have anemia and develop complications that are more serious.
  • Alpha Thalassemia Major (also called hydrops fetalis). This is caused by four missing genes or gene changes and is the most serious form of alpha thalassemia. It can lead to stillbirth or the death of a baby shortly after birth.
Beta Thalassemia

This is caused when there is a change in the genes that make a protein called beta globin. Beta globin is made up of two genes. Your baby gets one from each parent. There are three kinds of beta thalassemia:

  • Beta Thalassemia Minor (also called beta thalassemia trait). This condition is caused by one gene change and 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.
  • Beta Thalassemia Intermedia This condition is caused by two gene changes and generally causes mild anemia.
  • Beta Thalassemia Major (also called Cooley’s anemia). This is the most serious form of beta thalassemia and 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."

What Health Conditions can Thalassemia Cause?
  • Bone problems - Thalassemia can cause bone marrow to expand (get bigger). When bone marrow expands, the bones become wider and 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. The spleen 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, 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.
  • Too much iron in the blood - This can cause problems with your child’s heart, liver and other organs.
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/he may not need treatment. If your child’s condition is more serious, she/he may need medical treatment, including:

  • Blood transfusions. 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.
  • Folic acid supplements. 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. In a bone marrow transplant, your child gets new stem cells that may grow to make healthy, new cells. It is 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