Beta thalassemia is an inherited blood disorder. This means it is passed down through the parent’s genes. It is a form of anemia. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is part of red blood cells. It carries oxygen to organs, tissues, and cells. Beta thalassemia affects the production of hemoglobin.
There are different types of thalassemia. The severity of anemia depends on the type your child has.
Beta thalassemia is caused by a defect of the gene that controls hemoglobin production. There are 3 types:
Beta thalassemia major (Cooley's anemia). This is the most severe type of beta thalassemia. It is often found during the first 2 years of life. Children often need frequent blood transfusions. This can cause serious problems with iron overload.
Beta thalassemia intermedia. This type of thalassemia is common throughout the world. It results from the abnormal hemoglobin within the red blood cells. Because it is a less severe type, it is often found at a later age than beta thalassemia major. Transfusions are usually not needed.
Thalassemia minor or thalassemia trait. These are the carriers of beta thalassemia.
Beta thalassemia is an inherited problem. It is passed from parents to children. Depending on the specific type of thalassemia a parent has, that person's children have different chances that they will also have the disorder or be a carrier for it. It's important for carriers of the thalassemia gene to know how their children may be affected. They should talk with a healthcare provider.
The gene defect that causes beta thalassemia is more common in the following people:
The symptoms of beta thalassemia major occur when an infant is between 6 and 24 months. They include:
Poor growth and development
Enlarged abdomen from enlarged spleen
Jaundice, or yellowing of the eyes and skin
The symptoms of beta thalassemia intermedia happen at a later age and may include:
Pale or yellow skin
Enlarged liver and spleen
Leg ulcers or sores
Children with beta thalassemia minor may have mild anemia, but they often do not have symptoms.
The healthcare provider will ask about your child’s symptoms and health history. He or she will give your child a physical exam. Your child may also have tests, such as:
Complete blood count (CBC). A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells. It includes hemoglobin and hematocrit and more details about the red blood cells.
Peripheral smear. A small sample of blood is checked under a microscope to see if they look abnormal.
Hemoglobin electrophoresis. This test measures the types and amount of hemoglobin.
Iron studies. These studies check for iron deficiency anemia.
DNA testing. These tests look for gene defects. DNA testing can find alpha thalassemia carriers.
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
Your child's healthcare provider will likely send you to a hematologist. This is an expert in blood disorders. Treatment for beta thalassemia depends on the type. Your child may have to take daily doses of folic acid, a vitamin needed to make hemoglobin. Treatment may also include:
For beta thalassemia major:
Regular blood transfusions (your child gets healthy blood from a donor)
Medicines (to cut the amount of iron in the body, called chelation therapy)
Stem cell or cord blood transplant
Other therapies under study, including gene therapy
For beta thalassemia intermedia:
Possible blood transfusions
Possible removal of the spleen
Complications from frequent transfusions may happen when a child is about 10 or 11 years old. They are from having too much iron. The complications include:
Delayed growth and development, including sexual development
Heart, liver, and spleen problems
Endocrine system problems (for example, diabetes or thyroid problems)
Children with beta thalassemia intermedia may also have complications from iron overload.
The ongoing care of your child should include:
Regular physical exams
Regular blood work
Not taking iron supplements
Talk with your provider about genetic counseling.
Each child's symptoms and treatment are different. Make sure you understand your child's symptoms and treatment, including possible side effects. Call your child's provider if you notice any changes or have questions. For example, call the provider if your child has any of the following:
Slowed growth or development
Beta thalassemia is an inherited blood disorder in which a child has anemia.
It is caused by genetic defects that control the production of hemoglobin.
The types are beta thalassemia major, intermedia, and minor.
Treatment may include regular blood transfusions.
Treatment for iron overload is needed after years of transfusions.
Tips to help you get the most from a visit to your child’s healthcare provider:
Know the reason for the visit and what you want to happen.
Before your visit, write down questions you want answered.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
Ask if your child’s condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if your child does not take the medicine or have the test or procedure.
If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.