A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene

Hum Genet. 1989 Feb;81(3):298-9. doi: 10.1007/BF00279010.


Larger deletions are a rare cause of beta-thalassemia. We report a further instance of a deletion comprising about 300 bp in a female heterozygote. Exon 1, part of IVS-1 and the 5' beta-globin gene promotor region are lost.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Chromosome Deletion*
  • Female
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Thalassemia / genetics*


  • Globins