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

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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

  • Eng, Barry
  • Walsh, Robert
  • Walker, Lynda
  • Patterson, Margie
  • Waye, John

publication date

  • January 2005