Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease.

A Chinese patient with Hb H (β 4 ) disease was found to be a compound heterozygote for a 2.4 kb α + -thalassemia (thal) deletion and the common Southeast Asian α 0 -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. [ABSTRACT FROM AUTHOR]