Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.
Severe thalassemia can cause early death due to heart failure, usually between ages 20 and 30. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.
Less severe forms of thalassemia usually do not shorten lifespan.
Genetic counseling and prenatal screening may help people with a family history of this condition who are planning to have children.
Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.
Blood transfusions can help control some symptoms. However, they may result in too much iron, which can damage the heart, liver, and endocrine system.
Calling your health care provider
Call for an appointment with your health care provider if:
You or your child has symptoms of thalassemia
You are being treated for the disorder and new symptoms develop
Giardina PJ, Forget BG. Thalassemia syndromes. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 41.
DeBaun MR, Frei-Jones M, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 456.
Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.