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Thalassemia

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Thalassemia

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

Definition

Thalassemia is an inherited blood disorder. The body does not make enough of a red blood cell protein called hemoglobin. This lowers the number of healthy red blood cells that carry oxygen to the body.

There are two types:

  • Alpha—The alpha part of hemoglobin is faulty.
  • Beta—The beta part of hemoglobin is faulty.
Hemoglobin.

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Causes

Thalassemia is caused by problems in certain 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 symptoms. It depends on the type of thalassemia. Symptoms may be:

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

Diagnosis

Thalassemia is often found during childhood. The doctor will ask about 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—When needed, blood is given from a donor. This raises the level of healthy red blood cells.
  • Chelation therapy—Medicine is used to remove excess iron from transfusions. The medicine is injected into the skin or taken by mouth.
  • Folic acid supplements help build health red blood cells.
  • Bone marrow transplant—Healthy cells from a donor are used to grow new bone marrow. This lets the body grow healthy red blood cells. This may be a cure for some people.
  • Splenectomy—The spleen is a small organ near the stomach. Anemia can make it get too big and cause more problems. It may be removed with surgery.

Prevention

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

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Alpha-thalassemia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/alpha-thalassemia.
  • Beta-thalassemia major and intermedia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/beta-thalassemia-major-and-intermedia.
  • Beta-thalassemia minor. EBSCO DynaMed website. Available at:https://www.dynamed.com/condition/beta-thalassemia-minor-21.
  • Fibach E, Rachmilewitz EA. Pathophysiology and treatment of patients with beta-thalassemia - an update. F1000Res. 2017;6:2156.
  • What is thalassemia? National Heart, Lung, and Blood Institute website. Available at: https://www.nhlbi.nih.gov/health/thalassemia.

Contributors

  • Daniel A. Ostrovsky, MD
Last Updated:
2023-06-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.