Beta Thalassemia

Many people carry the beta thalassemia gene without knowing it.

Beta thalassemia (BT) is a blood condition that parents pass to their children through genes. It makes your body produce less hemoglobin than normal. Hemoglobin is an important protein inside red blood cells that carries oxygen throughout your body.

When you don’t have enough hemoglobin, your red blood cells cannot work properly. This causes anemia (low red blood cells) and can lead to health problems with your bones, heart and liver.

Many people carry the beta thalassemia gene without knowing it. They often don’t find out until they have a child with the condition or until a blood test shows anemia.

When we share our health care journey, we can inspire others to take action, which may improve their healthcare outcomes.

Who Gets Beta Thalassemia?

Beta thalassemia is most common in people whose families come from:

Asia

Beta thalassemia affects many people from Asian backgrounds.
Studies show it is found in people from:

Southeast Asia (Thailand, Malaysia, Indonesia, Vietnam)
East Asia (China, especially southern regions)
South Asia (India, Pakistan, Bangladesh, Sri Lanka)
Middle East (Iran, Iraq, Saudi Arabia, Lebanon)

Hemoglobin E/beta thalassemia is a specific type found almost only in Southeast Asian people.
Research shows this affects up to 50% of severe beta thalassemia cases worldwide.

The Mediterranean

Countries around the Mediterranean Sea have high numbers of beta thalassemia cases.
This includes:

Cyprus
Greece
Italy
Turkey

Studies show the carrier rate can be 1-20% in these areas.

Africa

Beta thalassemia is found throughout Africa, especially in:

North Africa (Tunisia, Morocco, Algeria, Egypt)
West Africa
Sub-Saharan Africa

Middle East

Middle Eastern populations have some of the highest beta thalassemia rates in the world.
Research shows carrier rates can reach up to 40% in some populations.

What Are the Symptoms of Beta Thalassemia?

Your symptoms depend on which type of beta thalassemia you have.
Symptoms can range from none to very serious.

For the most severe type, symptoms usually start in the first two years of life because the body cannot make enough hemoglobin.

These symptoms include:

Mild to severe anemia (low red blood cells)
Feeling very tired
Getting tired quickly during exercise or play
Slow growth or not growing as expected
Delayed puberty
Changes in face and head bone shape
Yellow skin or eyes (jaundice)
Trouble breathing or shortness of breath
Larger than normal spleen, liver, or heart

What are the Three Types of Beta Thalassemia

Beta Thalassemia Minor (Also Called “Trait” or “Carrier”)

This is the mildest form.
You have this when you inherit the beta thalassemia gene from only one parent.

Symptoms: Usually no symptoms, or very mild anemia. Many people don’t know they have it.
Treatment needed: Usually none. But if both parents are carriers, they have a 25% chance (1 in 4) with each pregnancy of having a child with beta thalassemia major.
What to do: If you are a carrier and planning to have children, your partner should get tested too.

Beta Thalassemia Intermedia

This is the middle form – more serious than minor but less serious than major.

Symptoms: Usually appear between ages 2-6 years, but can appear later. Symptoms include moderate anemia and may include slow growth and bone problems. How severe the symptoms are can vary from person to person.
Treatment needed:

- Sometimes need blood transfusions during illness or pregnancy
- May need medicine to remove extra iron from the body
- Regular check-ups to watch hormone levels, bone health, and spleen size

Beta Thalassemia Major (Also Called “Cooley’s Anemia” or “Transfusion-Dependent Beta Thalassemia”)

This is the most severe form.
It happens when you get the beta thalassemia gene from both parents.

Symptoms: Usually start within the first 2 years of life. Children have severe, life-threatening anemia.
Treatment needed: Lifelong treatment including:

- Regular blood transfusions every 2-5 weeks for life
- Medicine to remove extra iron from your body (this is very important because blood transfusions add iron to your body)
- Regular doctor visits to check your heart, liver, hormones, and bones
- In some cases, bone marrow transplant or new gene therapy treatments

How do you get tested for Beta Thalassemia?

If you think you might have beta thalassemia or want to know if you are a carrier, your doctor can do these tests:

Complete Blood Count (CBC)

This blood test looks for:

Anemia
Low hemoglobin
Small red blood cells

Hemoglobin Test (Also Called HPLC or Hemoglobin Electrophoresis)

This test finds abnormal patterns in your hemoglobin. It can show if you have beta thalassemia.

Genetic Testing (DNA Test)

This test looks at your genes to:

Confirm if you are a carrier or have beta thalassemia
Find out exactly which genetic change you have

Who should get genetic testing?

People with a family history of beta thalassemia
People planning to have children
Partners of people who are known carriers
People from areas where beta thalassemia is common (listed above)

Treatment Options for Therapy Beta Thalassemia

Exciting news!

In recent years, the FDA has approved new gene therapy treatments for people with transfusion-dependent beta thalassemia, which can reduce or even completely reduce your need for transfusions at all. You can ask your doctor if you are a candidate.

How gene therapy works: Doctors take your own blood stem cells, fix the genetic problem in a laboratory, and put the corrected cells back into your body. Your body can then make healthy hemoglobin on its own.

Important: Gene therapy is a complex treatment that takes several months and is only available at special treatment centers. Talk to your doctor to learn if it is right for you.

You CAN live a healthy life with Beta Thalassemia:

While beta thalassemia requires lifelong care, many people with this condition live full, active lives for many decades. Modern treatments have greatly improved life expectancy and quality of life.

New treatments like gene therapy may reduce or eliminate the need for regular blood transfusions. Some patients have already gone years without needing transfusions after gene therapy.

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Anita

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