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Beta Thalassemia

What is beta thalassemia?

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 of your child has.

What causes beta thalassemia?

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 are common.
  • Beta thalassemia intermedia. This type of thalassemia is common throughout the world. It may also be caused by abnormal hemoglobin. Or more than one type of abnormal hemoglobin may be present. It is often found later than beta thalassemia major. Transfusions are usually not needed.
  • Thalassemia minor or thalassemia trait. These are the carriers of beta thalassemia.

What are the risk factors for beta thalassemia?

Beta thalassemia is an inherited problem. It is passed from parents to children. 
  • Thalassemia major is inherited when two carrier parents who have thalassemia minor pass it on to their child. Each child of two carrier parents has a 25% of having beta thalassemia major. 
  • Thalassemia minor is inherited when two carrier parents pass it on to their child. Each child of two carrier parents has a 50% chance of having beta thalassemia minor. 
The gene defect that causes beta thalassemia is more common in the following people:
  • Greek
  • Italian
  • Middle Eastern
  • Asian
  • African

What are the symptoms of beta thalassemia?

The symptoms of beta thalassemia major occur when an infant is between 6 and 24 months. They include:
  • Poor growth and development
  • Pale skin
  • Feeding problems
  • Diarrhea
  • Irritability, fussiness
  • Fevers
  • Enlarged abdomen from enlarged spleen
The symptoms of beta thalassemia intermedia happen at a later age and include:
  • Pale or yellow skin
  • Gallstones
  • Enlarged liver and spleen
  • Bone changes
  • Leg ulcers or sores
  • Soft bones
Children with beta thalassemia minor have anemia, but often do not have symptoms.

How is beta thalassemia diagnosed?

Tests for beta thalassemia include:
  • 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.

How is beta thalassemia major treated?

Your  child’s health care provider will figure out the best treatment based on:
  • How old your child is
  • His or her overall health and medical history
  • How sick he or she is
  • How well your child can handle specific medications, procedures, or therapies
  • How long the condition is expected to last
  • Your opinion or preference
Your child's health care provider will likely send you to a hematologist. This is an expert in blood disorders. Treatment for beta thalassemia depends on the type. It may include:
  • For beta thalassemia major:
    • Regular blood transfusions (your child gets healthy blood from a donor)
      • Your child needs to have completed the hepatitis B vaccine series.
    • Medications (to cut amount of iron in the body, called chelation therapy)
    • Stem cell or cord blood transplant
    • Other therapies are under study, including gene therapy.  
  • For beta thalassemia intermedia:
    • Possible blood transfusions
    • Removal of the spleen
  • Daily doses of folic acid, a vitamin needed to make hemoglobin

What are the complications of beta thalassemia?

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)
  • Blood clots
  • Osteoporosis
Children with beta thalassemia intermedia may also have complications from iron overload.

How is beta thalassemia managed?

The ongoing care of your child should include:
  • Regular physical exams
  • Regular blood work
  • Avoiding iron supplements
Talk with your provider about genetic counseling.

When should I call the health care provider?

Each child's symptoms and treatment is 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
  • Feeding problems
  • Fussiness
  • Fevers

Key points about beta thalassemia

  • 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 includes regular blood transfusions.
  • Treatment for iron overload is needed after years of transfusions.

Next steps

Tips to help you get the most from a visit to your child’s health care provider:
  • Before your visit, write down questions you want answered.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child.
  • 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.

For more information or to schedule an appointment, call 314.454.5437 or 800.678.5437 or email us.


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