Thalassemia

(Mediterranean Anemia; Cooley Anemia; Thalassemia Major; Thalassemia Minor)

Pronounced: Thal-uh-SEE-mee-uh

Definition

Thalassemia is when a person's body does not make enough of a red blood cell protein called hemoglobin. This lowers the number of healthy red blood cells that can carry oxygen to the body.

Alpha thalassemia is when the alpha part of hemoglobin is faulty. Beta thalassemia is when the beta part is faulty.

Hemoglobin

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Causes

Thalassemia is caused by problems in specific genes that are passed from the parents. The type of thalassemia a person has depends on how many genes are passed.

Risk Factors

Thalassemia is more common in people who have a family history of it. Some types are more common in people with certain ancestry:

  • Alpha thalassemia—Middle East, areas around the Mediterranean Sea, Southeast Asia, Malaysia, and Southern China
  • Alpha hydrops fetalis—Southeast Asia, China, and Philippines
  • Beta thalassemia—Africa, areas around the Mediterranean Sea, and Southeast and Central Asia

Symptoms

Some people do not have symptoms. People who do will have mild to severe depending on the type of thalassemia:

  • Feeling tired
  • Pale or yellow skin color
  • Yellowing of the whites of the eyes
  • Lack of hunger
  • Slowed growth and delayed puberty
  • Dark urine
  • Belly swelling
  • Bone fractures

Diagnosis

Thalassemia is often found during childhood. The doctor will ask about your symptoms and health history. A physical exam will be done. Thalassemia is diagnosed with blood tests.

Treatment

Treatment will be based on the type of thalassemia a person has. Mild forms may not need to be treated. More severe forms may need:

Blood Transfusions

Blood is collected from a donor and delivered through the vein of a person with thalassemia. It is done to raise the person's level of healthy red blood cells with normal hemoglobin. It may need to be done again whenever red blood cells are low.

Chelation Therapy

Transfusions can make iron buildup in the blood. Chelation therapy uses medicine to remove the excess iron. It can be given under the skin or taken by mouth.

Folic Acid

Folic acid supplements may need to be taken to help build healthy red blood cells.

Bone Marrow Transplant

Blood cells are formed in the bone marrow. A bone marrow transplant uses healthy cells from a donor to grow new bone marrow. This can let the body grow healthy red blood cells. It may be a cure for some people. There can be health problems from having this done. It can also be hard to find a good match with a donor.

Splenectomy

The spleen is a small organ near the stomach. It helps to recycle old red blood cells. Anemia can enlarge the spleen and make it worse. The spleen may need to be removed. The surgery may help cut back on the number of blood transfusions that are needed.

Prevention

Thalassemia is caused by faulty genes. It cannot be prevented in people who have these genes.

RESOURCES:

Northern California Comprehensive Thalassemia Center
http://www.thalassemia.com
National Heart, Lung, and Blood Institute
http://www.nhlbi.nih.gov

CANADIAN RESOURCES:

Canadian Hemophilia Society
http://www.hemophilia.ca
The Thalassemia Foundation of Canada
http://www.thalassemia.ca

References:

Alpha-thalassemia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/alpha-thalassemia . Updated November 17, 2014. Accessed October 30, 2019.
Beta-thalassemia major and intermedia. EBSCO DynaMed website. Available at: https://www.dyname... . Updated June 13, 2019. Accessed October 30, 2019.
Beta-thalassemia minor. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/beta-thalassemia-minor-13 . Updated August 15, 2019. Accessed October 30, 2019.
Society for Maternal-Fetal Medicine (SMFM), Norton ME, et al. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015 Feb;212(2):127-139.
Thalassemias. National Heart, Lung, and Blood Institute website. Available at: https://www.nhlbi.nih.gov/health-topics/thalassemias. Accessed October 30, 2019.
4/24/2014 DynaMed Systematic Literature Surveillance https://www.dynamed.com/condition/alpha-thalassemia . Thalassaemia in pregnancy, Management of Beta (Green-top 66). Royal College of Obstetrians and Gynaecologists website. Available at: https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg66. Published March 27, 2014. Accessed October 30, 2019.
Last reviewed September 2019 by EBSCO Medical Review Board Daniel A. Ostrovsky, MD
Last Updated: 10/30/2019

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