Multiple minisequencing screen for seven southeast Asian nondeletional [alpha]-thalassemia mutations

From: Clinical Chemistry | Date: May 1, 2003| Author: | Copyright information

[alpha]-Thalassemia is the most common globin disorder in the world, and the severe forms are especially prevalent among Southeast Asians. It is a disorder of absent or reduced production of [alpha]-globin chains resulting from mutations in the [alpha]-globin gene cluster on chromosome 16p13.3. Most [alpha]-thalassemia mutations involve deletions of one (- [alpha]) or both (- -) [alpha]-globin genes, whereas point mutations within the [alpha]-globin genes ([alpha]^sup T^[alpha] or [alpha][alpha]^sup T^) are much less frequent. Nonetheless, the number of point mutations that have been ...

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