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Test Code: ATHAL
Description: Hemoglobin disorders caused by an absence or reduction of one or more of the globin chains are called thalassemias. The hallmark of these autosomal recessive disorders is an imbalance of globin chain synthesis. A relative deficiency of alpha globin leads to alpha thalassemia. Alpha thalassemia is most often caused by gene deletions and is common in individuals of African, Asian, Middle Eastern, Indian, and Mediterranean ancestry. This test includes a multiplex polymerase chain reaction and subsequent gel electrophoresis to evaluate the presence of the normal alpha 2 gene as well as the most common deletions: -3.7 kb, -4.2 kb, -20.5 kb, and the deletions most commonly encountered in southeast Asia, the Philippines, Thailand, and the Mediterranean.


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