Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease.
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.
Eng
Barry
B
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Walsh
Robert
R
Walker
Lynda
L
Patterson
Margie
M
Waye
John S
JS
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*
D005914:Globins