What is Beta Thalassemia?

Alison Maxwell

Learning About Beta Thalassemia

  • Beta thalassemia is an inherited blood disorder in which the body does not make enough red blood cells. Red blood cells deliver oxygen throughout the body.
  • A key symptom of beta thalassemia is anemia, meaning low red blood cells. This can cause fatigue and weakness.
  • To treat beta thalassemia, patients require frequent blood transfusions.  New medications such as Reblozyl (luspatercept-aamt) have been developed to help treat anemia caused by beta thalassemia.

Beta thalassemia is an inherited rare blood disease in which the hemoglobin (the protein inside red blood cells) is abnormal. This causes the patient to have persistently low red blood cells. Red blood cells deliver oxygen to the body. When a patient has low red blood cells, they often feel tired and weak. This condition is known as anemia.

“When you have beta thalassemia major or beta thalassemia intermedia, your hemoglobin or red blood cells are persistently low. And typically you require frequent blood transfusions to keep red blood cells above a certain threshold,” explains Dr. Jun Choi, a hematologist-oncologist at NYU Langone’s Perlmutter Cancer Center.

What are the types of beta thalassemia?

Beta thalassemia is classified into three groups.

Beta thalassemia major: This is the most severe type of the disorder. It results from two damaged genes passed down from both parents. People usually show serious symptoms between 6 months to 2 years.

“And so just like sickle cell anemia, people who have both mom and dad that have sickle cell anemia and you get the trait from both of them, have very severe disease. The same thing is true for thalassemia,”  Dr. Noah Merin, a hematologist-oncologist at Cedars Sinai’s Samuel Oschin Comprehensive Cancer Institute, explains.

Thalassemia intermedia: Patient has symptoms of moderate to severe anemia. The symptoms tend to develop later in life than with thalassemia major.

Thalassemia minor:  Patient is a carrier, but has few or no symptoms.

What causes beta thalassemia?

Beta thalassemia is a genetic disease caused by a change in a specific gene called the HBB gene, which provides instructions to create a part of the hemoglobin. Beta-thalassemia is prevalent in Mediterranean countries, Africa, the Middle East, Central Asia, India and Southern China as well as in people who have come from these areas.

“These (genetic) mutations are common in people that come from parts of the world where they have malaria exposure,” says Dr. Merin.

The genetic mutation exists to lower one’s risk of malaria. “If you’re a carrier of that trait, then the lifespan of your red blood cells is shortened, and that means that the malaria parasites, which live inside the red blood cells get eliminated when the red cells get recycled,” Dr. Merin says.

What are the symptoms of beta thalassemia?

Beta thalassemia major patients are generally diagnosed in early childhood because they are anemic, Dr. Merin says.

Other symptoms include:

  • Pale skin
  • Irritability
  • Poor appetite
  • Infections
  • Slowed growth
  • Abdominal swelling

How do you diagnose beta thalassemia?

Beta thalassemia is diagnosed using a series of blood tests.

  • Complete blood count (CBC): This is a routine blood test in which blood is drawn and red blood cells, white blood cells and platelets are measure. In people with beta thalassemia, the red blood cell count is low.
  • Hemoglobin electrophoresis:  This is a blood test to detect different types of hemoglobin and to “measure the size of the proteins in the hemoglobin molecule,” Dr. Merin says.
  • DNA testing: If hemoglobin variants are detected by electrophoresis then DNA testing can sequence the beta globin genes.

How do you treat beta thalassemia?

Treatment for beta thalassemia generally includes regular blood transfusions. During a blood transfusion, you receive healthy blood from a blood bank.

“You’ll get an IV line inserted, an intravenous line inserted into your vein,” says Dr. Choi. “And then this packet of red blood cells will be run into your vein for about two to three hours. And this will overall replace your low red blood cells to help improve your symptoms.”

Having frequent transfusions, though, can cause side effects. “Many transfusions can make a lot of iron build up in your body,” says Dr. Choi. “So over time you may have a lot of iron build up in your body and this iron can deposit in many other organs of your body, such as the heart, liver or the kidneys.”

An iron build-up in these organs can cause:

  • Heart failure
  • Diabetes
  • Liver disease

New medications such as Reblozyl (luspatercept-aamt) have been developed to help treat anemia caused by beta thalassemia.

“Reblozyl has shown to help young immature blood cells from the bone marrow to mature more quickly and more stably, so blood cells can be released from the bone marrow and circulate in your bloodstream,” says Dr. Choi. “This is something that you really want to ask your doctor about when your blood transfusion requirement becomes too heavy and too burdensome.”

Reblozyl is given as an injection under your skin. Serious side effects can include blood clots and high blood pressure.

Learn more about SurvivorNet's rigorous medical review process.

Alison Maxwell is the executive editor at SurvivorNet. Read More