Beta Thalassemia

Also known as: beta thalassemia major, Cooley’s anemia

What is beta thalassemia?

Hemoglobin is the red oxygen carrying pigment found in the blood’s red cells. It is made up of "heme" which carries iron and "globin" which is the protein part, made up of 4 long chains of amino acids (the building blocks of protein)- two chains are called "alpha" and the other two (depending on their structure) may be "beta", "delta", "gamma", or "epsilon" depending on the type of hemoglobin. In older children and adults, hemoglobin is composed of 2 alpha chains and 2 beta chains. In Beta thalassemia there is an abnormality in the production of beta chains which causes the red cells to more easily breakdown resulting in mild to severe anemia (low red blood cell count) depending on the type that is present (Major type-Cooley’s anemia / Intermediate type/ or Thalassemia minor or thalassemia trait). When an individual has beta thalassemia, their red blood cells do not have enough hemoglobin in them that is responsible for delivering oxygen throughout the body.

What causes beta thalassemia?

Beta thalassemia is an inherited (from parents) genetic disease. It is more common in Mediterranean (Italian or Greek), African or Southeast Asian peoples.

What are the symptoms of beta thalassemia?

Age of presentation and symptoms of beta thalassemia will depend on the type (Major/Intermediate or Trait) of thalassemia. They can include fever, anemia, weakness, fatigue, pale or yellow skin, a large abdomen from a big liver or spleen, a risk of blood clots and failure to grow. In the case of beta thalassemia major, the anemia can become life threatening.

What are beta thalassemia care options?

Treatments for beta thalassemia will vary based on its type and severity. Some may require little or no treatment, others may need some or all of the following- medication to remove iron, frequent blood transfusions, surgery to remove a large spleen and in some cases, a bone marrow transplant. Other therapies are under study.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 2:01:58 PM

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