Beta Thalassemia

What is beta thalassemia?

Thalassemia is a blood disorder
that is inherited. This means it is passed down from one or both parents through their
genes. When you have thalassemia, your body makes less hemoglobin than normal.
Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of
the body.

There are 2 main types of
thalassemia: alpha and beta. Different genes are affected for each type.

Thalassemia can cause mild or
severe anemia. Anemia occurs when your body does not have enough red blood cells or
hemoglobin. The severity and type of anemia depends on how many genes are affected.

How to say it


What causes beta thalassemia?

Beta thalassemia is caused by
changed (mutated) or missing genes. Two specific genes are affected. There are several
types of this disorder:

Beta thalassemia major (Cooley’s anemia)
. There are 2 damaged genes. This is the
most severe form of this disorder. People with this condition will need frequent blood
transfusions. They may not live a normal lifespan.

Beta thalassemia minor or thalassemia trait. Only 1 gene is
damaged. This causes less severe anemia. People with this type have a 1 in 2 chance of
passing the gene to their children. If the other parent is not affected, their children
will also have this form of the disorder. This type is further divided into:

  • Thalassemia minima. There are few or no symptoms.
  • Thalassemia intermedia. This causes moderate to severe anemia.

Many people with this disorder are given iron replacement by mistake. This happens when a lack of iron is believed to cause their anemia. Too much iron can be harmful. So it is important to get the right diagnosis. You may need to see a blood disorder specialist, called a hematologist. 

Who is at risk for beta thalassemia?

Beta thalassemia is a genetic disease inherited from one or both parents. The only risk factor is having a family history of the disease.

What are the symptoms of beta thalassemia?

Different people will have different symptoms, based on which type of the disorder is inherited.

Beta thalassemia major. This is the most severe type of this disorder. Children born with this type will have symptoms early in life that include:

  • Pale skin
  • Fussy
  • Having a poor appetite
  • Having many infections

Over time more symptoms will appear, including:

  • Slowed growth
  • Belly (abdominal) swelling
  • Yellowish skin (jaundice)

Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed.

People with this condition will need frequent blood transfusions and may not live a normal lifespan. Iron builds up in the heart and other organs from blood transfusions. This can cause heart failure as early as the teens or early 20s.

Thalassemia minima. This type often causes no symptoms.

Thalassemia intermedia. This type can cause symptoms of moderate to severe anemia including:

  • Extreme tiredness (fatigue)
  • Pale skin
  • Slow or delayed growth
  • Weak bones
  • Enlarged spleen

How is beta thalassemia diagnosed?

Beta thalassemia is most often
found in people who are from Greek, Italian, African, or Asian origin. The diagnosis is
most often made between ages 6 and 12.

These tests may be able to tell if you are a carrier, and can pass the disorder on to your children:

  • Complete blood count (CBC). This test checks the size, number, and maturity of different blood cells in a set volume of blood.
  • Hemoglobin electrophoresis. A lab
    test that differentiates the types of hemoglobin.

All of these studies can be done from a single blood sample. In a pregnant woman, the baby is diagnosed using CVS (chorionic villus sampling) or amniocentesis.