Abstract
A Chinese patient with Hb H (β4) disease was found to be a compound heterozygote for a 2.4 kb α+-thalassemia (thal) deletion and the common Southeast Asian α0-thal deletion. The endpoints of the 2.4 kb deletion were identified by sequence analysis of the deletion junction. The deletion removes the entire α1-globin gene and leaves the α2-globin gene intact.
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