Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha thalassemia
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 severe anemia during the first year of life.
Other symptoms can include:
Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.
A physical exam may reveal a swollen (enlarged) spleen.
A blood sample will be taken and sent to a laboratory for examination.
A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis.
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, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 462.
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