Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease

Hemoglobin. 2005;29(4):297-9. doi: 10.1080/03630260500312618.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People
  • DNA Mutational Analysis
  • Female
  • Gene Deletion*
  • Globins / genetics*
  • Heterozygote
  • Humans
  • alpha-Thalassemia / genetics*

Substances

  • Globins