Exams and Tests Recommended

A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.
Red blood cells will appear small and abnormally shaped when looked at under a microscope.
A complete blood count (CBC) reveals anemia.
A test called hemoglobin electrophoresis shows abnormal hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be detected with hemoglobin electrophoresis.
Treatment

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 the body, which can be harmful.

Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove iron from the body.

Bone marrow transplant may help treat the disease in some patients, especially children.
Outlook (Prognosis)

Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome.

Less severe forms of thalassemia usually do not result in a shorter life span.
Possible Complications

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, but may result in too much iron which can damage the heart, liver, and endocrine system.

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