title: Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease.
abstract: A Chinese patient with Hb H (beta4) disease was found to be a compound heterozygote for a 2.4 kb alpha(+)-thalassemia (thal) deletion and the common Southeast Asian alpha0-thal deletion. The endpoints of the 2.4 kb deletion were identified by sequence analysis of the deletion junction. The deletion removes the entire alpha1-globin gene and leaves the alpha2-globin gene intact.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Robert
authors.initials: R
authors.lastname: Walsh
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Margie
authors.initials: M
authors.lastname: Patterson
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000328:Adult; D044466:Asian People; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins