What causes
thalassemia?

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What causes thalassemia?

In thalassemia, there are changes to the genes that instruct the body to make hemoglobin.

  • Hemoglobin is made up of 2 units called globins—alpha (α) globin and beta (β) globin
  • In alpha-thalassemia, the alpha units of hemoglobin are missing or damaged
  • In beta-thalassemia, the beta units of hemoglobin are missing or damaged
  • In both types, hemoglobin is not produced properly, and red blood cells (RBCs) are not healthy

With thalassemia, RBCs don’t develop properly (called ineffective erythropoiesis). Thalassemia RBCs do not have enough energy (ATP) and break down sooner (called chronic hemolysis). This leads to chronic anemia.

ATP=adenosine triphosphate.

Important information about thalassemia callout

Currently, there are no medications for all types of thalassemia that address both the proper production of RBCs and their survival.

Healthy RBCs vs thalassemia

Blood Not Affected By Thalassemia

Graphic of healthy red blood cells not affected by thalassemia

The lifespan of normal RBCs is about 120 days

Blood Affected By Thalassemia

Graphic of red blood cells affected by thalassemia

The lifespan of thalassemia RBCs is about 17-33 days

For illustrative purposes only.

In thalassemia, the shorter lifespan of RBCs can cause chronic anemia symptoms and can also lead to serious complications.

How is thalassemia typically described?

Types of Thalassemia

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