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Case Reports
. 1991 Mar 1;77(5):1100-3.

High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region

J S Waye  1 , S P Cai, B Eng, C Clark, J G Adams 3rd, D H Chui, M H Steinberg
Affiliations
  • PMID: 1995096
Free article
Case Reports

High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region

J S Waye et al. Blood. .
Free article

Abstract

We identify and characterize a novel beta 0-thalassemia mutation that is associated with an unusually high level of hemoglobin (Hb) A2 in the heterozygote. This newly discovered mutation is caused by a 532-basepair deletion that extends from positions -454 to + 78 relative to the mRNA cap site of the beta-globin gene. The propositi are 9-month-old fraternal twins. One of the twins is a compound heterozygote for the deletion and Hb S, the other is a compound heterozygote for the deletion and Hb C.

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