Beta thalassemia is an inherited blood disorder in which the body doesn't make hemoglobin normally. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin can lead to anemia (not enough RBCs in the body) and other medical problems.
Depending on the type of beta thalassemia, symptoms can be mild or very severe. There are treatments that can help with symptoms.
The three types of beta thalassemia (BAY-tuh thahl-uh-SEE-mee-uh) are:
People with beta thalassemia trait usually do not have any symptoms.
Children with beta thalassemia intermedia or major may not show any symptoms at birth, but usually develop them in the first 2 years of life. They may have symptoms of anemia, such as:
People with beta thalassemia major or intermedia usually have a buildup of iron in the body, either from the disease itself or from the repeated blood transfusions. Excess iron can damage the heart, liver, and endocrine system.
People with beta thalassemia major may have other serious health problems, including:
Hemoglobin is made of two alpha proteins and two beta proteins. A gene change (mutation) in the alpha proteins causes alpha thalassemia. A gene change in the beta proteins causes beta thalassemia.
In beta thalassemia, the gene change causes an imbalance of hemoglobin proteins. The imbalance causes anemia because:
The imbalance also leads to medical problems in the bones, bone marrow, and other organs.
People inherit the genes for beta thalassemia from their parents. A child gets one beta protein gene from the mother and one from the father:
Sometimes a beta thalassemia gene change can be inherited with a sickle cell gene change. This results in sickle beta thalassemia, a type of sickle cell disease. A genetic counselor can help families understand the different ways beta thalassemia runs in families.
If a woman is pregnant and both parents have beta thalassemia trait, doctors can check the fetus by:
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 include one or both of these:
Treatment depends on what kind of beta thalassemia someone has.
Kids with beta thalassemia trait usually don't need treatment.
Children and adults with beta thalassemia major need lifelong medical care that includes:
People 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. A stem cell transplant can cure it, but it is a serious procedure with many risks and won't benefit everyone with the condition. Doctors and scientist are working on developing gene therapies and other treatments to help people with beta thalassemia.
A child who has beta thalassemia trait doesn't need any special care. Your child may want to talk to a genetic counselor someday to understand how beta thalassemia runs in families.
Be sure to tell all health care providers that your child has beta thalassemia trait. This way, when the mild anemia shows up on blood tests, the providers will know the cause.
Children with beta thalassemia intermedia or major need lifelong medical care. With regular health care, kids with beta thalassemia intermedia and major can live well into their 50s. The best way for your child to live his or her 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:
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:
You also can learn more about beta thalassemia online at:
Reviewed by: Corinna L. Schultz, MD
Date Reviewed: 01-08-2019
