Beta Thalassemia

What is beta thalassemia?

Beta thalassemia is an inherited blood disorder that causes people to make fewer red blood cells and less hemoglobin than normal. 

Hemoglobin is a protein on red blood cells that carries oxygen from the lungs to all parts of the body. There are 2 parts of hemoglobin: alpha globin and beta globin. The beta globin part does not work correctly in people who have beta thalassemia.

Beta thalassemia is caused by a gene change (mutation) that is inherited (passed down through families). People who inherit a missing or faulty hemoglobin gene from 1 parent but normal genes from the other parent have beta thalassemia trait or beta thalassemia minor. Other types of beta thalassemia include beta thalassemia intermedia (known as non-transfusion dependent thalassemia) and beta thalassemia major (known as transfusion dependent thalassemia). 

Beta thalassemia is a lifelong blood disorder that can cause serious health problems. People with this disease need medical treatment. 

Symptoms of beta thalassemia

Signs and symptoms of beta thalassemia depend on the type of beta thalassemia your child has and how severe it is. Most people with beta thalassemia trait have no signs or symptoms of illness.

Most beta thalassemia symptoms are due to anemia (low red blood cell count). Common symptoms of mild or moderate anemia include:

• Feeling weak and tired (fatigue)
• Dizziness or fainting 
• Shortness of breath
• Fast or irregular heartbeat
• Pale skin, gums, or nail beds
• Headache 
• Cold hands or feet 

Causes of beta thalassemia

Beta thalassemia is caused by changes in the genes that help the body make hemoglobin. The genes control the part of hemoglobin called beta globin. 

Everyone has 2 beta globin genes (1 from each parent).

• If 1 gene is changed, the person usually has the mild form, called beta thalassemia trait.
• If both genes are changed, the person has a more serious form called beta thalassemia intermedia or beta thalassemia major.

Beta thalassemia is inherited (passed down in families):

• If 1 parent has beta thalassemia trait and the other parent does not, each child has a 50% chance of inheriting the trait.
• If both parents have beta thalassemia trait, each child has a 25% chance of having the more serious form of beta thalassemia.

Beta thalassemia can also be present along with other gene changes, like sickle cell trait. For example, if 1 parent has beta thalassemia trait and the other has sickle cell trait, their child could have a condition called sickle beta thalassemia, which can cause similar problems as sickle cell disease.

Beta thalassemia is more common in people who had family members who originally came from: 

• Africa
• Greece 
• Italy
• Middle East
• Asia

Diagnosis of beta thalassemia

A blood test can diagnose beta thalassemia. Because this condition is passed down in families, knowing where your family comes from and their health history can help your care team diagnose it. 

To diagnose beta thalassemia, your care team may use these tests:

• Complete blood count (CBC): A blood test that checks how many red blood cells your child has and what they look like
• Genetic testing: A test that looks for changes in the genes that cause beta thalassemia 
• Hemoglobin electrophoresis: A laboratory test that measures the amount and type of hemoglobin in your child’s blood sample

Types of beta thalassemia

The type of beta thalassemia your child has depends on the genes they inherited.

Types of beta thalassemia include:

• Beta thalassemia trait (beta thalassemia minor): If the changed gene is passed down only from 1 parent, the child is a carrier or has beta thalassemia trait (beta thalassemia minor). Carriers often have no symptoms or only mild anemia, but they can pass the gene on to their children. Learn more about beta thalassemia trait.

If your child inherited a faulty gene from both parents, they would have a more serious form of beta thalassemia, which can be either: 

• Beta thalassemia intermedia: a moderate form that causes mild to moderate anemia
• Beta thalassemia major (Cooley’s anemia): a form that causes more severe anemia, known as “transfusion-dependent thalassemia.” People with this form need blood transfusions for their whole life.

A genetic counselor can help you understand your child’s specific diagnosis. They can explain your child’s risks of getting this condition and passing it down to their children.

Treatment of beta thalassemia

People with beta thalassemia need specialized medical care. Their treatment will depend on how severe their beta thalassemia is. For beta thalassemia trait, no treatment is needed. 

Treatments for beta thalassemia include medicines and blood transfusions. Other options may include stem cell (bone marrow) transplant or gene therapy. Your child’s treatment plan will depend on their age and specific medical needs. 

Treatment options for moderate or severe beta thalassemia may include:

Hydroxyurea

Hydroxyurea is a medicine that can help some people with beta thalassemia.

It works by helping your child’s body make more of a type of hemoglobin called fetal hemoglobin. Fetal hemoglobin is usually only made before birth, but hydroxyurea helps the body keep making it after a child is born.

Fetal hemoglobin helps carry oxygen in the blood when there are lower hemoglobin levels from beta thalassemia. Hydroxyurea helps raise fetal hemoglobin levels, which can reduce symptoms like tiredness and weakness. It may lower the need for blood transfusions.

Scientists are also studying other ways to help the body make more fetal hemoglobin after birth, which may lead to new treatments. Not everyone with beta thalassemia will benefit from hydroxyurea. Your care team will decide if it is right for your child.

Luspatercept

Luspatercept is a medicine that may be used for some adults with beta thalassemia. It can help treat anemia by helping red blood cells develop and work better.

Blood transfusions 

People with more serious forms of beta thalassemia may need blood transfusions. A red blood cell transfusion delivers healthy red blood cells from a donor through a vein. The red blood cells from the donor help carry oxygen to your child’s body. Blood transfusions may prevent or treat different health problems caused by beta thalassemia. 

Sometimes only 1 single transfusion is needed. Other patients need “chronic” transfusions, where they may receive blood once a month for many years. Learn more about blood product transfusions and red blood cell exchange.

• People with moderate beta thalassemia may need transfusions only sometimes, like when they are sick.
• People with severe beta thalassemia often need regular transfusions every few weeks.

Iron chelation therapy  

Blood transfusions can help your child feel better and live longer, but they can sometimes cause extra iron to build up in the body. The extra iron from transfusions (iron overload) can harm organs like the heart and liver. Medicines called chelators help remove extra iron. These may be given as shots or pills to swallow. These medicines can have side effects, such as nausea, vomiting, diarrhea, and abdominal pain. Other side effects can include low blood counts.

Stem cell (bone marrow) transplant

A stem cell (bone marrow) transplant is a potential cure for beta thalassemia. A stem cell transplant replaces your child’s blood-forming stem cells with healthy ones from a donor who is a close match, usually a brother or sister. Most people with beta thalassemia are not good candidates for this treatment. 

A stem cell transplant is a major medical procedure and can have serious side effects. Learn more about stem cell transplants.

Gene therapy 

New gene therapy treatments, such as Zynteglo^®, are now being studied for beta thalassemia. Gene therapy allows doctors to put a normal hemoglobin gene into stem cells in the bone marrow. This helps people with beta thalassemia make their own healthy hemoglobin and red blood cells. Gene therapy is approved for children over 12 years of age.

Living with beta thalassemia

With proper treatment and good medical care, people who have moderate or severe beta thalassemia can live longer and have a better quality of life.

Genetic counseling and prenatal screening can help people with a family history of beta thalassemia who are planning to have children.

If your child has beta thalassemia, you can help them by:

• Getting regular medical care: Your child will need medical care their whole life. No single treatment is right for every child. Regular appointments with a hematologist who specializes in treating children with beta thalassemia can help. Be sure your child has all routine health and wellness checkups and gets their recommended vaccinations.
• Giving medicines as instructed: Your child may need to take medicines every day. Be sure your child takes all medicines as instructed. Talk to your care team or pharmacist if you have questions.
• Encouraging healthy habits: Help your child develop a healthy lifestyle through physical activity, healthy eating, and good sleep habits. Be sure your child drinks enough fluids and does not smoke or vape.

Questions to ask your care team

• What type of beta thalassemia does my child have?
• What treatments are available? Which are best for my child?
• How will beta thalassemia affect my child’s health now and in the future?
• How often does my child need checkups?
• What activities should my child avoid?
• What signs and symptoms should we watch for?
• How is beta thalassemia passed down in families?
• What do we need to know about genetic testing for family members?
• Are there any clinical trials for beta thalassemia?