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What Is Beta Thalassemia?

Beta thalassemia is an inherited blood disorder in which the body doesn't make as much beta globin as it should. Beta globin and alpha globin are building blocks of hemoglobin. Hemoglobin is the part of red blood cell (RBC) that carries oxygen throughout the body. The decrease in beta globin causes anemia (not enough RBCs in the body) and can lead to other medical problems.

Depending on the type of beta thalassemia, anemia can be mild or very severe.

What Are the Different Types of Beta Thalassemia?

The three main types of beta thalassemia (BAY-tuh thahl-uh-SEE-mee-uh) are:

  • Beta thalassemia trait (also called beta thalassemia minor). People with beta thalassemia minor may have mild anemia, but usually don't need any medical treatment.
  • Beta thalassemia intermedia. People with beta thalassemia intermedia have moderately severe anemia and some will need blood transfusions and other medical treatment. Blood transfusions deliver healthy hemoglobin and RBCs to the body.
  • Beta thalassemia major (also called Cooley's anemia). People with beta thalassemia major have life-threatening anemia. They need regular blood transfusions and other medical care.

What Are the Signs & Symptoms of Beta Thalassemia Trait?

People with beta thalassemia usually do not have any symptoms. They might have a very mild anemia.

What Are the Signs & Symptoms of Beta Thalassemia Intermedia or Major?

Children with beta thalassemia intermedia or major may not show any symptoms at birth, but usually develop anemia in the first 2 years of life. Signs of anemia in beta thalassemia intermedia or major may include:

  • extreme tiredness
  • pale skin
  • shortness of breath
  • a fast heartbeat
  • moodiness or irritability
  • slow growth
  • change in the shape of bones in the face and head

People with beta thalassemia intermedia or major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. Extra iron can damage the heart, liver, and endocrine system.

People with beta thalassemia major may have other serious health problems, including:

  • bone deformities from changes in the bone marrow (where RBCs are made)
  • an enlarged spleen. Doctors might need to remove the spleen if it gets too big or causes pain.
  • gallstones. Doctors might need to remove the gallbladder if the stones cause pain or infection.
  • infections, especially if doctors removed the spleen (the spleen helps fight some infections)
  • diabetes from damage to the pancreas and endocrine system

What Causes Beta Thalassemia?

Someone with beta thalassemia has a change (or mutation) in the beta globin gene that causes less beta globin to be made than typical. The decrease in beta globin causes an imbalance in the amount of alpha and beta globin. This imbalance causes anemia and the other medical problems of beta thalassemia.

People inherit the instructions (or genes) that make beta globin and alpha globin from their parents. Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. Every child inherits two genes that make beta globin: one from each parent.

  • Someone who inherits a beta thalassemia mutation from one parent has beta thalassemia trait (beta thalassemia minor).
  • Someone who inherits a beta thalassemia mutation from each parent has beta thalassemia intermedia or beta thalassemia major (Cooley's anemia).

Sometimes a child inherits a beta thalassemia mutation from one parent and a sickle cell mutation from the other parent. This results in a type of sickle cell disease called sickle-beta thalassemia. A genetic counselor can help families understand the different ways beta thalassemia or sickle cell runs in families.

How Is Beta Thalassemia Diagnosed?

If a woman is pregnant and both parents have beta thalassemia trait, doctors can check the fetus by:

  • chorionic villus sampling (CVS): Done about 11 weeks into pregnancy, this involves removing a tiny piece of the placenta for testing.
  • amniocentesis: Usually done about 16 weeks into the pregnancy, this involves removing a sample of the fluid that surrounds the fetus to check for signs of problems.

Young children may be diagnosed with a blood test if they develop anemia, have a swollen belly (from an enlarged spleen), or have poor growth. The blood tests might include:

How Is Beta Thalassemia Treated?

Treatment depends on what kind of beta thalassemia someone has.

Kids with beta thalassemia trait don't need treatment.

Children with beta thalassemia major need lifelong medical care that includes:

  • blood transfusions about every 2–4 weeks
  • medicines to remove extra iron from their bodies (called chelation)

Children with beta thalassemia intermedia may need blood transfusions and chelation (key-LAY-shun) but not as often as people with beta thalassemia major.

Blood transfusions and chelation do not cure beta thalassemia. Some people with beta thalassemia intermedia and major can be cured with a stem cell transplant. A stem cell transplant is a serious procedure with many risks. Doctors and scientists are working on developing gene therapies and other treatments to help people with beta thalassemia.

How Can Parents Help Kids With Beta Thalassemia Trait?

Be sure to tell all health care providers that your child has beta thalassemia trait. This way, when mild anemia from beta thalassemia trait shows up on blood tests, they’ll know the cause. Sometimes the mild anemia from beta thalassemia trait gets mistaken for iron deficiency. Ask for iron tests to be done before your child takes extra iron supplements or medicines.

You or your child may want to talk to a genetic counselor someday to understand how beta thalassemia, sickle cell, and other hemoglobin changes run in families.

How Can Parents Help Kids With Beta Thalassemia Intermedia or Major?

Children with beta thalassemia intermedia or major need lifelong medical care. The best way for your child to live their healthiest life is to get regular medical care, which includes transfusions and chelation.

It is important to establish a health care team for your child. If you live near a Thalassemia Treatment Center, the center will help you put the team together. The team should include:

  • a hematologist (a doctor who specializes in blood disorders)
  • doctors to treat problems from iron overload, including:
    • an endocrinologist (a doctor who specializes in organs that make hormones)
    • a cardiologist (heart doctor)
    • a gastrointestinal doctor (a doctor who specializes in the digestive tract)
    • an infectious disease doctor to help treat any infections
    • a dietitian to help with meal planning and any vitamin supplements that are needed
    • a primary care doctor to help with routine care
    • a case manager (a nurse or other provider who coordinates your child's medical care)
    • a social worker to help with insurance information and your child's schooling, and to support you, your child, and your family
    • a psychologist to help caregivers and your child cope with thalassemia

What Else Should I Know?

If your child has beta thalassemia intermedia or beta thalassemia major, it can be a challenge for your family to manage the medical care and the thoughts and feelings that come with the illness. It can help to find support through:

  • your child's care team, especially the social worker or psychologist
  • other families who have a child with beta thalassemia
  • friends and family

Help your child see the opportunities they have, not the limitations. And manage your own stress level by taking care of yourself and doing things that you enjoy.

Include siblings of the child with thalassemia. Show them that they can have a role, such as keeping their sibling company during transfusions or just being there to listen.

You also can learn more about beta thalassemia online at:

Medically reviewed by: Corinna L. Schultz, MD
Date reviewed: March 2022