ThalassemiaSymptoms, Doctors, Treatments, Advances & More
Learn About Thalassemia
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
Mediterranean anemia; Cooley anemia; Beta thalassemia; Alpha thalassemia
Common conditions include: Alpha Thalassemia, Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Beta Thalassemia
Hemoglobin is made of two proteins:
- Alpha globin
- Beta globin
Thalassemia occurs when there is a variant in a gene that helps control production of one of these proteins.
There are two main types of thalassemia:
- Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or there is a variant.
- Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent.
Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.
There are several forms of thalassemia. Each type has different subtypes. Both alpha and beta thalassemia include the following two forms:
- Thalassemia major
- Thalassemia minor
You must inherit the variant gene from both parents to develop thalassemia major.
Thalassemia minor occurs if you receive the variant gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.
Beta thalassemia major is also called Cooley anemia.
Risk factors for thalassemia include:
- Asian, Chinese, Mediterranean, or African American ethnicity
- Family history of the disorder
The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life.
Other symptoms can include:
- Bone deformities in the face
- Fatigue
- Growth failure
- Shortness of breath
- Yellow skin (jaundice)
People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.
Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in your body, which can be harmful.
People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.
A bone marrow transplant may help treat the disease in some people, especially children.
A new medicine known as luspatercept, which is given as a subcutaneous shot, has been shown to decrease requirements for transfusion in people with thalassemia major.
Aurora Internal Medicine
Alok Srivastava is a primary care provider, practicing in Internal Medicine in Waterford, Wisconsin. Dr. Srivastava is rated as an Elite provider by MediFind in the treatment of Thalassemia. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Hemophilia A, Blood Clots, Beta Thalassemia, Kidney Transplant, and Bone Marrow Aspiration. Dr. Srivastava is board certified in American Board Of Internal Medicine.
Franco Locatelli practices practicing medicine in Rome, Italy. Mr. Locatelli is rated as an Elite expert by MediFind in the treatment of Thalassemia. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Acute Lymphoblastic Leukemia (ALL), Leukemia, Graft Versus Host Disease (GvHD), Bone Marrow Transplant, and Splenectomy.
Antonella Meloni practices practicing medicine in Pisa, Italy. Ms. Meloni is rated as an Elite expert by MediFind in the treatment of Thalassemia. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Beta Thalassemia, Thalassemia, Congenital Hemolytic Anemia, Hemolytic Anemia, and Splenectomy.
Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia often do not shorten lifespan.
You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children.
Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.
Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.
Contact your provider if:
- You or your child has symptoms of thalassemia.
- You are being treated for the disorder and new symptoms develop.
Summary: This is a non-ablative (partial) stem cell transplant for patients with severe sickle cell disease or beta-thalassemia requiring red cell transfusions. The intensity of the transplant is slightly increased from our previous transplant regimens. The goal is to aim for higher percentage of donor cells to stably remain in the recipients long term.
Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders. To do this, they need to collect biological samples from people with blood disorders. They also need to collect samples from healthy people.
Published Date: January 29, 2026
Published By: Warren Brenner, MD, Oncologist, Lynn Cancer Institute, Boca Raton, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Thom CS, Lambert MP. Anemia in the newborn infant. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 139.