Types of Beta Thalassemia

If you or your child gets a diagnosis of the blood disorder beta thalassemia, it's important to find out which type it is. The kind of disease you have affects the symptoms you can expect and the treatment you'll get.

When you have beta thalassemia, your body doesn't make enough protein in red blood cells called hemoglobin. That makes it hard for oxygen to get to all of your body's cells.

There are three main types of the disease: beta thalassemia major, intermedia, and minor. All of them happen because of a mutation (change) of the HBB gene.

Beta Thalassemia Major

This is the most serious form of the disease and happens when you inherit two mutated copies of the HBB gene. Your child will likely get diagnosed with this type by the time he's 2 years old.

There's a lot to take in as a parent when your child gets a diagnosis of this type of beta thalassemia. Make sure you find people to give you support while you help your child manage the condition. Your family and friends can be a huge help in providing you the emotional backing you need. Ask your doctor about meeting with mental health professionals if you find you are feeling stressed or anxious.

Beta thalassemia major causes severe anemia -- a condition that can make you feel tired and weak. Beta thalassemia major also slows growth in infants and young children.

The spleen and liver may grow to a larger than normal size from childhood through adulthood due to a buildup of damaged red blood cells.

Your bones may become brittle and thin because the disease causes your bone marrow -- the spongy center of bones -- to expand.

This type of beta thalassemia can also cause adolescents to have delayed puberty. As your child becomes an adult, he'll be more likely to get diabetes. It's rare, but there's also a greater chance of getting a blood clot when your child grows into adulthood.

You'll likely need to get regular blood transfusions to manage severe anemia. Frequent transfusions can sometimes cause too much iron to build up in your body, which can damage your liver, heart, and endocrine system -- a network of glands that make hormones. To prevent this, you may need to have your iron levels tested regularly. If too much iron has built up, you may need "iron chelation therapy" -- medicines that get rid of the extra iron.

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Beta Thalassemia Intermedia

Beta thalassemia intermedia causes symptoms that are less severe than those of beta thalassemia major.
Your child may get a diagnosis when he goes to the doctor because of problems like feeling extremely tired, jaundice (yellowing of the skin), or growing slower than normal.

Kids and adults with beta thalassemia intermedia may get larger spleens than normal. Puberty could start late. You or your child could get weak bones and have a greater chance of breaking them.


Since the symptoms of beta thalassemia intermedia are milder than beta thalassemia major, you likely won't need frequent blood transfusions, if you need them at all.

Beta Thalassemia Minor

Sometimes called "beta thalassemia trait," this version of the disease has few symptoms other than possible mild anemia. You might not even realize you have the disease for many years.

You may not need regular treatment for beta thalassemia minor unless you feel tired and weak.

Even though you may not have symptoms, it's still important to know that you have a defective HBB gene. If your partner also has a mutated HBB gene, you have a 1 in 4 chance of having a child with a more serious type of beta thalassemia.

WebMD Medical Reference Reviewed by Hansa D. Bhargava, MD on November 18, 2019

Sources

SOURCES:

Mayo Clinic: "Thalassemia."

National Institutes of Health: "Beta Thalassemia."

American Family Physician, "Alpha and Beta Thalassemia."

National Center for Biotechnology Information: "GeneReviews: Beta Thalassemia."

British Journal of Hematology: "The Era of Comparable Life Expectancy Between Thalassaemia Major and Intermedia."

Johns Hopkins Medicine: "Beta Thalassemia."

Cooley's Anemia Foundation: "An Introduction to Beta Thalassemia Intermedia."

St. Jude Children's Research Hospital: "Beta Thalassemia Trait."

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