Beta Thalassemia

Beta thalassemia is an inherited blood disorder that affects your body’s ability to make hemoglobin. This iron-rich protein is the main ingredient in red blood cells. The protein enables these cells to carry oxygen to tissues throughout your body.

If you have beta thalassemia, you don’t have enough healthy red blood cells. The lack of healthy red blood cells may lead to anemia. Severe thalassemia is diagnosed in infancy or early childhood. People with less severe forms aren’t usually diagnosed until they’re adults and have a routine blood test done.

Beta thalassemia is one of two main types of thalassemia. The other type is alpha thalassemia.

Types of beta thalassemia

Healthcare providers classify the condition types by their symptoms, which range from mild to severe. The types are:

• Beta thalassemia major (Cooley’s anemia): This type causes the most severe symptoms. Providers may call this transfusion-dependent thalassemia because people with it need blood transfusions for the rest of their lives.
• Beta thalassemia intermedia: This type causes mild to moderate symptoms.
• Beta thalassemia minor (beta thalassemia trait): This type may not cause symptoms or only cause mild symptoms.

Symptoms of beta thalassemia

This condition may not cause symptoms. When it does, it causes anemia-related symptoms that may be mild to severe, including:

• Fatigue
• Dizziness or weakness
• Frequent headaches
• Skin paleness
• Shortness of breath
• Heart palpitations
• Yellow skin or eyes (jaundice)
• Dark or tea-colored pee
• Swollen belly
• Weak or misshapen bones in your arms, legs and face

Babies with beta thalassemia may be especially fussy and get frequent infections. The condition symptoms may start when your baby is 3 to 6 months old or before they turn 2.

Beta thalassemia causes

This condition happens when there’s a change (genetic variation or mistake) in the hemoglobin beta (HBB) gene. This gene tells your body how to make beta-globin chains. This is one of the two types of protein chains that make up hemoglobin. The other is alpha-globin.

In beta thalassemia, you don’t have enough beta-globin chains for your body to make hemoglobin. That means you don’t have enough healthy red blood cells, and you develop anemia.

You’ll have a type of beta thalassemia if you inherit the changed gene from one or both of your biological parents. Healthcare providers call this autosomal recessive inheritance.

Inheriting changed genes from both parents increases the chance you’ll have a more serious type of the condition. You may have the less serious type if you inherit a changed gene from one parent and a normal gene from the other parent.

How doctors diagnose beta thalassemia

Healthcare providers will do a physical exam and blood tests. Beta thalassemia major, the most severe type, is diagnosed in early childhood. Children with beta thalassemia major usually receive a diagnosis by the time they’re 2 years old. Tests to diagnose beta thalassemia may include:

• Complete blood count (CBC)
• Reticulocyte count
• Hemoglobin electrophoresis
• Genetic tests (to identify the genetic change in hemoglobin that causes the condition)

Prenatal tests like amniocentesis or chorionic villus sampling (CVS) may detect the genetic change during pregnancy.

If your provider or your child’s pediatrician suspects you or your child has beta thalassemia, they’ll review all the results. They’ll answer questions you may have, like:

• What type of thalassemia is it and how does the condition affect one’s health?
• If treatment is necessary, what options are available?
• As it’s an inherited disorder, should other family members be tested for thalassemia?

How is beta thalassemia treated?

Your treatment will depend on the type you have. In general, people with the most severe type need more medical support. Potential treatments are:

• Blood transfusions: The transfusions give you more red blood cells to carry oxygen through your body. If you have the major type of thalassemia, you may need regular blood transfusions throughout your life.
• Iron chelation therapy: This treatment helps prevent iron overload from frequent blood transfusions that can damage your liver or heart.
• Folic acid supplements: The supplement helps your body make red blood cells. Your doctor may recommend them if you have mild anemia.
• Luspatercept ( Rebolzy^®): This drug helps your body make more red blood cells. It’s a treatment for the severe form of beta thalassemia that doesn’t improve with blood transfusions or medication.
• Stem cell transplant: This is treatment for the most severe form of beta thalassemia.

What can I expect if my baby has this condition?

Your baby will have regular check-ups and tests so their pediatrician can track any changes in their health. This will include frequent physical exams to check on their growth and development. They may do tests to check iron levels and liver function tests. Beta thalassemia major can affect your child’s bones, heart and liver. That’s why it’s very important that their pediatrician check for any bone, heart or liver issues.

What is the life expectancy for someone with beta thalassemia?

People with the least serious form of this condition typically don’t need treatment and have normal lifespans. Life expectancy for people living with the more severe type is typically shorter than a normal lifespan.

A bone marrow or stem cell transplant is the only known cure for the most severe form of beta thalassemia. Researchers are studying different types of gene therapy. This type of treatment holds great promise for treating beta thalassemia major.

When you think about living with beta thalassemia, try to keep in mind that your situation may be very different from others who have the condition. If you have questions about living with this condition, your healthcare provider is your best resource for information.