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Causes
Hemoglobin is made of two proteins: Alpha globin and beta globin.
Thalassemia occurs when there is a defect in a gene that helps control
production of one of these proteins.
There are two main types of thalassemia:
Thalassemia major
Thalassemia minor
You must inherit the gene defect from both parents to develop
thalassemia major.
Thalassemia minor occurs if you receive the faulty gene from only one
parent. Persons 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's anemia.
Symptoms
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 thalessemia major (Cooley's anemia) are normal at
birth, but develop severeanemia during the first year of life.
Other symptoms can include:
Fatigue
Growth failure
Shortness of breath
Yellow skin (jaundice)
Persons with the minor form of alpha and beta thalassemia have small red
blood cells but no symptoms.
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 the presence of an
abnormal form of hemoglobin.
A test called mutational analysis can help detect alpha thalassemia.
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.
Outlook (Prognosis)
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.
Possible Complications
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.
You are being treated for the disorder and new symptoms develop
Alternative Names
Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha
thalassemia
References
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.
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