Thalassemia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Thalassemia?
A hematologist, a doctor who treats blood disorders, usually leads care for thalassemia. Children may see a pediatric hematologist, a blood doctor for children. A genetic counselor can explain how the condition runs in families. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Thalassemia?
Thalassemia is a blood disorder passed down through families. People with it make an abnormal form of hemoglobin or too little of it. Hemoglobin is the protein in red blood cells that carries oxygen. Many red blood cells are destroyed, which leads to anemia. With too little hemoglobin, red blood cells cannot carry enough oxygen to the body's organs and tissues.
There are two main types, alpha thalassemia and beta thalassemia. Hemoglobin is made of two proteins, alpha globin and beta globin. Each type has two forms, called thalassemia major and thalassemia minor. Beta thalassemia major is also called Cooley anemia.
Symptoms
People with the minor form have small red blood cells but no symptoms. Children born with beta thalassemia major are normal at birth. They develop severe anemia during the first year of life. Other symptoms can include:
- Bone deformities in the face.
- Fatigue, which means feeling very tired.
- Growth failure.
- Shortness of breath.
- Yellow skin, called jaundice.
Causes and who gets it
Thalassemia happens when a gene that helps control one of the hemoglobin proteins has a change, called a variant.
You must inherit the changed gene from both parents to have thalassemia major. If you receive the changed gene from only one parent, you have thalassemia minor and are a carrier. Carriers can pass the changed gene on to their children. Carriers often have no symptoms or only mild anemia.
Alpha thalassemia occurs most often in people from Southeast Asia, the Middle East, China, and in those of African descent. Beta thalassemia occurs most often in people of Mediterranean origin. Having a family history of the disorder also raises the risk.
How doctors diagnose it
Your health care provider will do a physical exam to look for an enlarged spleen. A blood sample will be sent to a lab. Under a microscope, the red blood cells look small and abnormally shaped. Other tests can help:
- A complete blood count, or CBC, shows anemia.
- A test called hemoglobin electrophoresis shows an abnormal form of hemoglobin and can detect beta thalassemia.
- A test called mutational analysis can help detect alpha thalassemia.
Treatment
Treatment depends on the type and how serious it is. If you are a carrier or have alpha or beta thalassemia trait, you likely have mild or no symptoms and may not need treatment.
Blood transfusions are the main way to treat moderate or severe thalassemia. They give you red blood cells with healthy hemoglobin. People with beta thalassemia major may need regular transfusions every 3 to 4 weeks. People with hemoglobin H disease or beta thalassemia intermedia may need them only sometimes, such as during an infection, pregnancy, or surgery. Treatment for thalassemia major also often includes folate supplements.
Regular transfusions can cause iron buildup, called iron overload. This can lead to potentially life-threatening complications. People who get regular transfusions get iron chelation therapy to remove extra iron from the body. People who receive blood transfusions should not take iron supplements.
A blood or bone marrow transplant can cure thalassemia. However, only a small number of people with severe thalassemia can find a good donor match and are a good fit for the procedure. A provider may also prescribe medicines called luspatercept and hydroxyurea. Luspatercept can lessen the number of transfusions needed by people with moderate to severe anemia from thalassemia.
When to see a doctor
Contact your provider if you or your child has symptoms of thalassemia. Also contact your provider if you are being treated for the disorder and new symptoms develop.
Call 911 or go to the emergency room if you have chest pain, fainting, or severe trouble breathing.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either kind of doctor can review symptoms, order basic blood tests, and help keep track of long-term care. They can also help coordinate visits with a blood specialist.
Common questions
Can thalassemia be cured?
Sometimes, yes. A blood or bone marrow transplant can cure thalassemia. However, only a small number of people with severe thalassemia can find a good donor match and are a good fit for the procedure.
What is the difference between thalassemia major and minor?
Thalassemia major happens when you inherit the changed gene from both parents. Thalassemia minor happens when you inherit it from only one parent. People with the minor form are carriers.
Is thalassemia life threatening?
Severe thalassemia can cause early death because of heart failure. Regular blood transfusions and therapy to remove iron from the body help improve the outcome. Less severe forms often do not shorten lifespan.
Can thalassemia be prevented?
No, thalassemia cannot be prevented because it is caused by changes in genes. Couples at risk may want to meet with a genetic counselor.
Should people with thalassemia take iron pills?
No, people who receive blood transfusions should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.
Sources
- MedlinePlus - Thalassemia
- National Heart, Lung, and Blood Institute - Thalassemia: Causes
- National Heart, Lung, and Blood Institute - Thalassemia: Treatment
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
