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

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.

• α-Thalassemia (thal)
• Deletion
• Hb H disease
• Chinese