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About β‑thalassemia

β-thalassemia is an inherited blood disorder

β-thalassemia (BAY-tah THAL-a-SEE-mee-ah) is an inherited condition, which means it is passed down from parents to children. It is a disorder that can lead to anemia, which is a low number of red blood cells or a low amount of hemoglobin, the oxygen-carrying molecule in red blood cells. Roughly 55% of patients are older than 20 years (average age 23.2 years).

What causes β-thalassemia?

In people with β-thalassemia, hemoglobin may not be made correctly. Normal, healthy hemoglobin includes 2 sets of 2 different proteins: an alpha and a beta. In many people with β-thalassemia, “beta globin” proteins are not formed correctly. If your body does not produce enough of either protein, red blood cells do not form properly and cannot carry the oxygen your organs need to stay healthy. This could result in anemia, which may be severe enough to require red blood cell transfusions.

β-thalassemia can cause symptoms of anemia and other conditions

If you have anemia, you may feel tired, weak, or have pale skin. Your doctor will measure hemoglobin to help determine if you have anemia. When you have anemia due to β-thalassemia, there can be complications, such as an enlarged spleen or brittle bones.

  • If anemia causes the spleen to become enlarged, some patients with β-thalassemia will have it removed through a surgery called a splenectomy

Types of β-thalassemia

Many people with β-thalassemia rely on red blood cell transfusions

Red blood cell transfusions are a primary option for treating anemia in people with β-thalassemia. Transfusions add new, working red blood cells to your body from a donor. They temporarily replace red blood cells and help increase hemoglobin, but do not help your body produce more.

Red blood cells are rich in iron, so repeated transfusions may result in iron collecting abnormally in organs like your heart, liver, spleen, or endocrine glands. This buildup can prevent these organs from working properly, so a treatment called a “chelating agent” is often used to remove this excess iron.

Types of β-thalassemia that may require red blood cell transfusions

β-thalassemia | Graphic showing Beta Thal intermedia and Beta Thal major (Cooley's anemia) β-thalassemia | Graphic showing Beta Thal intermedia and Beta Thal major (Cooley's anemia)

Understanding anemia

Anemia occurs in patients with β-thalassemia in 3 ways:

Graphic showing that anemia occurs in patients with β-thalassemia in 3 ways Graphic showing that anemia occurs in patients with β-thalassemia in 3 ways

Why some people with β-thalassemia have too few mature, working red blood cells

Mature red blood cells are produced in bone marrow through a process called erythropoiesis. In people with β-thalassemia, not enough immature red blood cells (erythroid cells) are able to mature and leave the bone marrow. These erythroid cells are unable to do the job of fully working, mature red blood cells, which is to carry oxygen throughout the body.

  • When erythroid cells start to pile up in the bone marrow, they can prevent mature, working red blood cells from developing
Graphic with definition of ineffective erythropoiesis Graphic with definition of ineffective erythropoiesis
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