Beta Thalassemia

What is beta thalassemia?

Thalassemia is a blood disorder that is inherited. This means it’s 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 two 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 doesn’t have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.

How to say it

thal-uh-SEE-mee-uh

What causes beta thalassemia?

Beta thalassemia is caused by changed (mutated) or missing genes. The types of the disorder are based on how severe the anemia is:

  • Beta thalassemia minor. This is also called beta thalassemia trait. It may cause no symptoms or only mild anemia. People with this mild form may not need treatment.
  • Thalassemia intermedia. This causes moderate to severe anemia. You may sometimes need transfusions and other treatment.
  • Beta thalassemia major (Cooley anemia). This is the most severe form. People with this condition may have life-threatening anemia. They will need regular blood transfusions and other treatment.

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’s important to get the right diagnosis. You may need to see a blood disorder specialist (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 life span. 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 intermedia

This type can cause symptoms of moderate to severe anemia. These include:

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

Thalassemia minor

This type often causes no symptoms.

How is beta thalassemia diagnosed?

Beta thalassemia is most often found in people who are of 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. This lab test 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.